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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Trigriluzole Trigriluzole 0 0
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
ABL1 A287V missense unknown ABL1 A287V lies within the protein kinase domain of the Abl1 protein (UniProt.org). A287V has been identified in the scientific literature (PMID: 26603839, PMID: 28990873), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 A380T missense unknown ABL1 A380T lies within the protein kinase domain of the Abl1 protein (UniProt.org). A380T has been identified in the scientific literature (PMID: 29434953), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jul 2022).
ABL1 A397P missense unknown ABL1 A397P lies within the protein kinase domain of the Abl1 protein (UniProt.org). A397P has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 C330G missense unknown ABL1 C330G lies within the protein kinase domain of the Abl1 protein (UniProt.org). C330G has been identified in the scientific literature (PMID: 19373669), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 C475W missense unknown ABL1 C475W lies within the protein kinase domain of the Abl1 protein (UniProt.org). C475W has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E1085K missense unknown ABL1 E1085K lies within the F-actin-binding region of the Abl1 protein (UniProt.org). E1085K has not been characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E275D missense unknown ABL1 E275D lies within the protein kinase domain of the Abl1 protein (UniProt.org). E275D has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E279K missense unknown ABL1 E279K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E279K has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 16754879), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 E279V missense unknown ABL1 E279V lies within the protein kinase domain of the Abl1 protein (UniProt.org). E279V has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E279W missense unknown ABL1 E279W lies within the protein kinase domain of the Abl1 protein (UniProt.org). E279W has not been characterized in the scientific literature and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E281K missense unknown ABL1 E281K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E281K has been identified in the scientific literature (PMID: 21193419, PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jul 2022).
ABL1 E282D missense unknown ABL1 E282D lies within the protein kinase domain of the Abl1 protein (UniProt.org). E282D has been identified in the scientific literature (PMID: 26603839, PMID: 12654249), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E292L missense unknown ABL1 E292L lies within the protein kinase domain of the Abl1 protein (UniProt.org). E292L has been identified in the scientific literature (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022).
ABL1 E355A missense unknown ABL1 E355A lies within the protein kinsase domain of the Abl1 protein (UniProt.org). E355A has been identified as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 E355G missense unknown ABL1 E355G lies within the protein kinase domain of the Abl1 protein (UniProt.org). E355G has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 28278078), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 E450G missense unknown ABL1 E450G lies within the protein kinase domain of the Abl1 protein (UniProt.org). E450G has been identified in the scientific literature (PMID: 25132497, PMID: 35399694), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 E459K missense unknown ABL1 E459K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E459K has been identified as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 19201023, PMID: 28657534), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 E507G missense unknown ABL1 E507G does not lie within any known functional domains of the Abl1 protein (UniProt.org). E507G has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 F311I missense unknown ABL1 F311I lies within the protein kinase domain of the Abl1 protein (UniProt.org). F311I has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 25132497, PMID: 26582647), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F311L missense unknown ABL1 F311L lies within the protein kinase domain of the Abl1 protein (UniProt.org). F311L has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F317I missense unknown ABL1 F317I lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317I has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 and another secondary drug resistance mutation (PMID: 25132497), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F317L missense unknown ABL1 F317L lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317L has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 30787317), and demonstrates reduced Abl1 kinase activity and transformation activity in the context of BCR-ABL1 compared to wild-type BCR-ABL1 (PMID: 17164333), but has not been individually characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022). Y
ABL1 F317R missense unknown ABL1 F317R lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317R has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022). Y
ABL1 F317V missense unknown ABL1 F317V lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317V has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 23044928, PMID: 15705718), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F359C missense unknown ABL1 F359C lies within the protein kinase domain of the Abl1 protein (UniProt.org). F359C has been identified as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 19798095, PMID: 26773037), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F359I missense unknown ABL1 F359I lies within the protein kinase domain of the Abl1 protein (UniProt.org). F359I has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F359V missense unknown ABL1 F359V lies within the protein kinase domain of the Abl1 protein (UniProt.org). F359V has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 16046538, PMID: 21562040, PMID: 30711891), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 F486S missense unknown ABL1 F486S lies within the protein kinase domain of the Abl1 protein (UniProt.org). F486S has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022).
ABL1 G250H missense unknown ABL1 G250H lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250H has been identified in the scientific literature (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 G250R missense unknown ABL1 G250R lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250R has been identified in the scientific literature (PMID: 17982022, PMID: 28801986), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 G250W missense unknown ABL1 G250W lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250W has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 G251D missense unknown ABL1 G251D lies within the protein kinase domain of the Abl1 protein (UniProt.org). G251D has been identified in the scientific literature (PMID: 17947479), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 G251E missense unknown ABL1 G251E lies within the protein kinase domain of the Abl1 protein (UniProt.org). G251E has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 H295_P296insH insertion unknown ABL1 H295_P296insH results in the insertion of one amino acid in the protein kinase domain of the Abl1 protein between amino acids 295 and 296 (UniProt.org). H295_P296insH has been identified in sequencing studies (PMID: 21442193), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 H295dup duplication unknown ABL1 H295dup indicates the insertion of the duplicate amino acid, histidine (H)-295, in the protein kinase domain of the Abl1 protein (UniProt.org). H295dup has been identified in sequencing studies (PMID: 21442193), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 H396R missense unknown ABL1 H396R lies within the protein kinase domain of the Abl1 protein (UniProt.org). H396R has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 28467002), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 I432M missense unknown ABL1 I432M lies within the protein kinase domain of the Abl1 protein (UniProt.org). I432M has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 I502L missense unknown ABL1 I502L does not lie within any known functional domains of the Abl1 protein (UniProt.org). I502L has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 K262N missense unknown ABL1 K262N lies within the protein kinase domain of the Abl1 protein (UniProt.org). K262N has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 K294E missense unknown ABL1 K294E lies within the protein kinase domain of the Abl1 protein (UniProt.org). K294E has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 K357dup duplication unknown ABL1 K357dup indicates the insertion of the duplicate amino acid, lysine (K)-357, in the protein kinase domain of the Abl1 protein (UniProt.org). K357dup has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 22387050), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022). Y
ABL1 K609del deletion unknown ABL1 K609del (also reported as K628del in isoform IB) results in the deletion of an amino acid in nuclear localization signal motif 1 of the Abl1 protein at amino acid 609 (UniProt.org). K609del has not been characterized in the scientific literature and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 L248R missense unknown ABL1 L248R lies within the protein kinase domain of the Abl1 protein (UniProt.org). L248R has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928, PMID: 31493432), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022). Y
ABL1 L248V missense unknown ABL1 L248V lies within the protein kinase domain of the Abl1 protein (UniProt.org). L248V has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 L298V missense unknown ABL1 L298V lies within the protein kinase domain of the Abl1 protein (UniProt.org). ABL1 L298V has been demonstrated to confer drug resistance in the context of BCR-ABL1 (PMID: 27868464), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 L302H missense unknown ABL1 L302H lies within the protein kinase domain of the Abl1 protein (UniProt.org). ABL1 L302H has been associated with secondary drug resistance in the context of RANBP2-ABL1 (PMID: 33390067), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022). Y
ABL1 L384M missense unknown ABL1 L384M lies within the protein kinase domain of the Abl1 protein (UniProt.org). L384M has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 L387M missense unknown ABL1 L387M lies within the protein kinase domain of the Abl1 protein (UniProt.org). L387M has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 28451802), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 M237R missense unknown ABL1 M237R does not lie within any known functional domains of the Abl1 protein (UniProt.org). M237R has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 M237V missense unknown ABL1 M237V does not lie within any known functional domains of the Abl1 protein (UniProt.org). M237V has been identified in the scientific literature (PMID: 26603839, PMID: 16527898, PMID: 20595523), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 M244V missense unknown ABL1 M244V lies within the protein kinase domain of the Abl1 protein (UniProt.org). M244V has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 M343T missense unknown ABL1 M343T lies within the protein kinase domain of the Abl1 protein (UniProt.org). M343T has been identified in the scientific literature (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2022).
ABL1 M388L missense unknown ABL1 M388L lies within the protein kinase domain of the Abl1 protein (UniProt.org). M388L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 M437I missense unknown ABL1 M437I lies within the protein kinase domain of the Abl1 protein (UniProt.org). M437I has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 N368S missense unknown ABL1 N368S lies within the protein kinase domain of the Abl1 protein (UniProt.org). N368S has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 P223S missense unknown ABL1 P223S does not lie within any known functional domains of the Abl1 protein (UniProt.org). P223S has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 P310L missense unknown ABL1 P310L lies within the protein kinase domain of the Abl1 protein (UniProt.org). P310L has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 P918S missense unknown ABL1 P918S lies within the DNA-binding domain of the Abl1 protein (UniProt.org). P918S has been identified in the scientific literature (PMID: 27900369), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 P980L missense unknown ABL1 P980L lies within the F-actin-binding region of the Abl1 protein (UniProt.org). P980L has not been characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 Q252H missense unknown ABL1 Q252H lies within the protein kinase domain of the Abl1 protein (UniProt.org). Q252H results in a loss of inhibitor binding and has also been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 16046538, PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 Q346L missense unknown ABL1 Q346L lies within the protein kinase domain of the Abl1 protein (UniProt.org). Q346L has been identified in the scientific literature (PMID: 21762985), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 R239C missense unknown ABL1 R239C does not lie within any known functional domains of the Abl1 protein (UniProt.org). R239C has been identified in sequencing studies (PMID: 29269125), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 R362T missense unknown ABL1 R362T lies within the protein kinase domain of the Abl1 protein (UniProt.org). R362T has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 R386M missense unknown ABL1 R386M lies within the protein kinase domain of the Abl1 protein (UniProt.org). R386M has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 S417Y missense unknown ABL1 S417Y lies within the protein kinase domain of the Abl1 protein (UniProt.org). S417Y has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 30082224), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 S972L missense unknown ABL1 S972L lies in the F-actin-binding region of the Abl1 protein (UniProt.org). S972L has been identified in sequencing studies (PMID: PMID: 25082755) but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022).
ABL1 T277I missense unknown ABL1 T277I lies within the protein kinase domain of the Abl1 protein (UniProt.org). T277I has been identified in sequencing studies (PMID: 26164066, PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 T315A missense unknown ABL1 T315A lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315A has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 17339191, PMID: 17710227, PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315C missense unknown ABL1 T315C lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315C is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315D missense unknown ABL1 T315D lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315D is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315E missense unknown ABL1 T315E lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315E is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Mar 2022). Y
ABL1 T315F missense unknown ABL1 T315F lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315F is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Mar 2022). Y
ABL1 T315G missense unknown ABL1 T315G lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315G is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315H missense unknown ABL1 T315H lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315H is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Mar 2022). Y
ABL1 T315K missense unknown ABL1 T315K lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315K is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315L missense unknown ABL1 T315L lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 27813432), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315M missense unknown ABL1 T315M lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315M is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402, PMID: 31543464), demonstrates catalytic efficiency (kcat/km) similar to wild-type protein in an in vitro assay (PMID: 30684523), but has not been fully characterized and therefore, its effect on Abl1 protein function is unknown. Y
ABL1 T315N missense unknown ABL1 T315N lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315N has been associated with resistance to Abl1 inhibitors (PMID: 16046538), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315P missense unknown ABL1 T315P lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315P is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315Q missense unknown ABL1 T315Q lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315Q is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315R missense unknown ABL1 T315R lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315R is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315S missense unknown ABL1 T315S lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315S is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315V missense unknown ABL1 T315V lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315V has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022). Y
ABL1 T315W missense unknown ABL1 T315W lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315W is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 T315Y missense unknown ABL1 T315Y lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315Y is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 V299L missense unknown ABL1 V299L lies within the protein kinase domain of the Abl1 protein (UniProt.org). ABL1 V299L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 18242697, PMID: 23086624, PMID: 30419862), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 V379I missense unknown ABL1 V379I lies within the protein kinase domain of the Abl1 protein (UniProt.org). V379I has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 28467002), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2022). Y
ABL1 V422I missense unknown ABL1 V422I lies within the protein kinase domain of the Abl1 protein (UniProt.org). V422I has been identified in sequencing studies (PMID: 20595523), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ABL1 Y456C missense unknown ABL1 Y456C lies within the protein kinase domain of the Abl1 protein (UniProt.org). Y456C has been identified in the scientific literature (PMID: 23355941, PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2022).
ALK A1047T missense unknown ALK A1047T lies within the transmembrane domain of the Alk protein (UniProt.org). A1047T has been identified in sequencing studies (PMID: 28524162), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK A1200_G1201delinsW indel unknown ALK A1200_G1201delinsW results in deletion of an alanine (A) and a glycine (G) from aa 1200 to aa 1201 in the protein kinase domain of the Alk protein, combined with the insertion of a tryptophan (W) at the same site (UniProt.org). A1200_G1201delinsW has been associated with secondary drug resistance to some ALK inhibitors (PMID: 34548910), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jun 2022). Y
ALK A1266D missense unknown ALK A1266D lies within the protein kinase domain of the Alk protein (UniProt.org). A1266D has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022.
ALK ERLEC1 ALK - ERLEC1 fusion unknown ALK-ERLEC1 results from the fusion of ALK and ERLEC1 (PMID: 33419583). ALK-ERLEC1 has been identified in lung adenocarcinoma (PMID: 33419583), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2022).
ALK HLA-DRB1 ALK - HLA-DRB1 fusion unknown ALK-HLA-DRB1 results from the fusion of ALK and HLA-DRB1 (PMID: 35280798). ALK-HLA-DRB1 has been identified in lung adenocarcinoma (PMID: 35280798), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Sep 2022).
ALK SSH2 ALK - SSH2 fusion unknown ALK-SSH2 results from the fusion of ALK and SSH2 (PMID: 35144623). ALK-SSH2 has been identified in lung adenocarcinoma (PMID: 35144623), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2022).
ALK C1156F missense unknown ALK C1156F lies within the protein kinase domain of the Alk protein (UniProt.org). C1156F has been demonstrated to occur as a secondary drug resistance mutation in the context of NPM1-ALK (PMID: 25749034, PMID: 30322862), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK C1156Y missense unknown ALK C1156Y lies within the protein kinase domain of the Alk protein (UniProt.org). C1156Y has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 21613408, PMID: 20979473, PMID: 27490033, PMID: 27045755), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK C990R missense unknown ALK C990R lies within the extracellular domain of the Alk protein (UniProt.org). C990R increased cell proliferation and cell viability compared to wild-type Alk in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK D1203N missense unknown ALK D1203N lies within the protein kinase domain of the Alk protein (UniProt.org). D1203N has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 25421750, PMID: 27432227, PMID: 28434515), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK D1529G missense unknown ALK D1529G lies within the cytoplasmic domain of the Alk protein (UniProt.org). D1529G has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK D94N missense unknown ALK D94N lies within the extracellular domain of the Alk protein (UniProt.org). D94N has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK E1129V missense unknown ALK E1129V lies within the protein kinase domain of the Alk protein (UniProt.org). E1129V has been identified in the scientific literature (PMID: 34890832, PMID: 36093526, PMID: 33161228), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2022).
ALK E1154K missense unknown ALK E1154K lies within the protein kinase domain of the Alk protein (UniProt.org). E1154K has been identified in the scientific literature (PMID: 31585938), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK E1210K missense unknown ALK E1210K lies within the protein kinase domain of the Alk protein (UniProt.org). E1210K has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 29650534, PMID: 25914136, PMID: 27432227), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK E1303K missense unknown ALK E1303K lies within the protein kinase domain of the Alk protein (UniProt.org). E1303K has been identified in the scientific literature (PMID: 29978950), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK E1400D missense unknown ALK E1400D lies within the cytoplasmic domain of the Alk protein (UniProt.org). E1400D has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK E1407K missense unknown ALK E1407K lies within the cytoplasmic domain of the Alk protein (UniProt.org). E1407K has been identified in the scientific literature (PMID: 29290262, PMID: 35042152), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK E310D missense unknown ALK E310D lies within the MAM domain 1 of the Alk protein (UniProt.org). E310D has been identified in sequencing studies (PMID: 28915720), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jun 2022).
ALK E717K missense unknown ALK E717K lies within the extracellular domain of the Alk protein (UniProt.org). E717K has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK E862D missense unknown ALK E862D lies within the extracellular domain of the Alk protein (UniProt.org). E862D has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK F1245I missense unknown ALK F1245I lies within the protein kinase domain of the Alk protein (UniProt.org). F1245I has been identified in the scientific literature (PMID: 30778092), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK F1245L missense unknown ALK F1245L lies within the protein kinase domain of the Alk protein (UniProt.org). F1245L has been identified in the scientific literature (PMID: 30867766, PMID: 18923524), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK F1245Q missense unknown ALK F1245Q lies within the protein kinase domain of the Alk protein (UniProt.org). F1245Q has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK G1123D missense unknown ALK G1123D lies within the protein kinase domain of the Alk protein (UniProt.org). G1123D has been demonstrated to confer drug resistance in cell culture (PMID: 21948233), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK G1123S missense unknown ALK G1123S lies within the protein kinase domain of the Alk protein (UniProt.org). G1123S has been demonstrated to confer drug resistance in culture (PMID: 26134233, PMID: 21948233), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK G1128S missense unknown ALK G1128S lies within the protein kinase domain of the Alk protein (UniProt.org). G1128S has been demonstrated to occur as a secondary drug resistance mutation in the context of NPM1-ALK (PMID: 25749034), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK G1202del deletion unknown ALK G1202del results in the deletion of an amino acid in the protein kinase domain of the Alk protein at amino acid 1202 (UniProt.org). G1202del has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 27432227), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK G1202K missense unknown ALK G1202K lies within the protein kinase domain of the Alk protein (UniProt.org). G1202K has been identified in the scientific literature (PMID: 33790576), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK G1202L missense unknown ALK G1202L lies within the protein kinase domain of the Alk protein (UniProt.org). G1202L has been identified in the scientific literature (PMID: 33380260), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2022).
ALK G1202R missense unknown ALK G1202R lies within the protein kinase domain of the Alk protein (UniProt.org). G1202R has been demonstrated to confer drug resistance in the context of ALK fusions (PMID: 22277784, PMID: 24736079), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK G1269A missense unknown ALK G1269A lies within the protein kinase domain of the Alk protein (UniProt.org). G1269A has been demonstrated to occur as a secondary resistance mutation in the context of ALK rearrangement (PMID: 30675302, PMID: 28434515, PMID: 29872693), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK G1269E missense unknown ALK G1269E lies within the protein kinase domain of the Alk protein (UniProt.org). G1269E has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK G689V missense unknown ALK G689V lies within the extracellular domain of the Alk protein (UniProt.org). G689V has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK G746C missense unknown ALK G746C lies within the extracellular domain of the Alk protein (UniProt.org). G746C has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK G922R missense unknown ALK G922R lies within the extracellular domain of the Alk protein (UniProt.org). G922R has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK H1030P missense unknown ALK H1030P lies within the extracellular domain of the ALK protein (UniProt.org). H1030P has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK I1171S missense unknown ALK I1171S lies within the protein kinase domain of the Alk protein (UniProt.org). I1171S has been demonstrated to confer drug resistance in the context of ALK fusions in culture (PMID: 27009859, PMID: 25393796, PMID: 26464158), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK I1179V missense unknown ALK I1179V lies within the protein kinase domain of the Alk protein (UniProt.org). I1179V has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 29650534), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK I1268V missense unknown ALK I1268V lies within the protein kinase domain of the Alk protein (UniProt.org). I1268V has been identified in the scientific literature (PMID: 31585938), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK I1461V missense unknown ALK I1461V lies within the cytoplasmic domain of the Alk protein (UniProt.org). I1461V has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK K894T missense unknown ALK K894T lies within the extracellular domain of the Alk protein (UniProt.org). K894T has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK L1122V missense unknown ALK L1122V lies within the protein kinase domain of the Alk protein (UniProt.org). L1122V has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 29650534, PMID: 25421750), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK L1152M missense unknown ALK L1152M lies within the protein kinase domain of the Alk protein (UniProt.org). L1152M has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK L1152P missense unknown ALK L1152P lies within the protein kinase domain of the Alk protein (UniProt.org). L1152P has been demonstrated to confer drug resistance in the context of ALK rearrangement in culture (PMID: 24675041), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2022). Y
ALK L1152R missense unknown ALK L1152R lies within the protein kinase domain of the Alk protein (UniProt.org). L1152R has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 21791641, PMID: 27091190), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK L1152V missense unknown ALK L1152V lies within the protein kinase domain of the Alk protein (UniProt.org). L1152V is associated with decreased ALK inhibitor sensitivity in the context of an ALK fusion in culture (PMID: 22034911), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2022).
ALK L1196Q missense unknown ALK L1196Q lies within the protein kinase domain of the Alk protein (UniProt.org). L1196Q has been demonstrated to confer resistance to Alk inhibitors in the context of ALK rearrangements (PMID: 23239810, PMID: 25749034, PMID: 33209633), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022). Y
ALK L1204V missense unknown ALK L1204V lies within the protein kinase domain of the Alk protein (UniProt.org). L1204V has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 29650534), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK L1256F missense unknown ALK L1256F lies within the protein kinase domain of the Alk protein (UniProt.org). L1256F demonstrates transforming and tumorigenic activity and confers drug resistance in the context of ALK fusions (PMID: 29650534, PMID: 30662002), but has not been individually characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK L1319V missense unknown ALK L1319V lies within the protein kinase domain of the Alk protein (UniProt.org). L1319V has been identified in the scientific literature (PMID: 33776709), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2022).
ALK L868Q missense unknown ALK L868Q lies within the extracellular domain of the Alk protein (UniProt.org). L868Q has not been characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK M1166V missense unknown ALK M1166V lies within the protein kinase domain of the Alk protein (UniProt.org). M1166V has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK M1478T missense unknown ALK M1478T lies within the cytoplasmic domain of the Alk protein (UniProt.org). M1478T has been identified in sequencing studies (PMID: 27852271), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK N1178H missense unknown ALK N1178H lies within the protein kinase domain of the Alk protein (UniProt.org). N1178H has been demonstrated to occur as a secondary drug resistance mutation in the context of NPM1-ALK (PMID: 25749034), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK P1112Q missense unknown ALK P1112Q lies within the cytoplasmic domain of the Alk protein (UniProt.org). P1112Q has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK P1139S missense unknown ALK P1139S lies within the protein kinase domain of the Alk protein (UniProt.org). P1139S has been associated with decreased sensitivity to some ALK inhibitors in the context of NPM1-ALK (PMID: 25421750), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK P1298S missense unknown ALK P1298S lies within the protein kinase domain of the Alk protein (UniProt.org). P1298S has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK P1543S missense unknown ALK P1543S lies within the cytoplasmic domain of the Alk protein (UniProt.org). P1543S has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK P157S missense unknown ALK P157S lies within the extracellular domain of the Alk protein (Uniprot.org). P157S has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK P1599S missense unknown ALK P1599S lies within the cytoplasmic domain of the Alk protein (UniProt.org). P1599S has been identified in sequencing studies (PMID: 29684080), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK P279L missense unknown ALK P279L lies within the MAM domain 1 of the Alk protein (UniProt.org). P279L has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK P36S missense unknown ALK P36S lies within the extracellular domain of the Alk protein (UniProt.org). P36S has been identified in sequencing studies (PMID: 20579941), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK P40L missense unknown ALK P40L lies within the extracellular domain of the Alk protein (UniProt.org). P40L has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK Q1146K missense unknown ALK Q1146K lies within the protein kinase domain of the Alk protein (UniProt.org). Q1146K has been identified in the scientific literature (PMID: 34687488), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2022).
ALK Q1146P missense unknown ALK Q1146P lies within the protein kinase domain of the Alk protein (UniProt.org). Q1146P has been identified in the scientific literature (PMID: 31894386), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2022).
ALK Q1188_L1190del deletion unknown ALK Q1188_L1190del results in the deletion of three amino acids in the protein kinase domain of the Alk protein from amino acids 1188 to 1190 (UniProt.org). Q1188_L1190del has been identified in the scientific literature (PMID: 33887694), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R1113Q missense unknown ALK R1113Q lies within the cytoplasmic domain of the Alk protein (UniProt.org). R1113Q has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R1181H missense unknown ALK R1181H lies within the protein kinase domain of the Alk protein (UniProt.org). R1181H has been identified in the scientific literature (PMID: 35441911), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R1212H missense unknown ALK R1212H lies within the protein kinase domain of the Alk protein (UniProt.org). R1212H has been identified in sequencing studies (PMID: 21499247, PMID: 28912153, PMID: 28581676), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R284K missense unknown ALK R284K lies within MAM domain 1 of the Alk protein (UniProt.org). R284K has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R291C missense unknown ALK R291C lies within MAM domain 1 of the Alk protein (UniProt.org). R291C has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK R311H missense unknown ALK R311H lies within MAM domain 1 of the Alk protein (UniProt.org). R311H has been identified in sequencing studies (PMID: 30410351, PMID: 23202128, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK R395H missense unknown ALK R395H lies within MAM domain 1 of the Alk protein (UniProt.org). R395H has been identified in sequencing studies (PMID: 22877736), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022).
ALK R401L missense unknown ALK R401L lies within MAM domain 1 of the Alk protein (UniProt.org). R401L has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK R753Q missense unknown ALK R753Q lies within the extracellular domain of the Alk protein (UniProt.org). R753Q has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK S1053F missense unknown ALK S1053F lies within the transmembrane domain of the Alk protein (UniProt.org). S1053F has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK S1206C missense unknown ALK S1206C lies within the protein kinase domain of the Alk protein (UniProt.org). S1206C has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 25421750), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK S1206F missense unknown ALK S1206F lies within the protein kinase domain of the Alk protein (UniProt.org). S1206F has been identified in the scientific literature (PMID: 27565908, PMID: 31712133), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK S1206R missense unknown ALK S1206R lies within the protein kinase domain of the Alk protein (UniProt.org). S1206R has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 22034911), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2022). Y
ALK S1206Y missense unknown ALK S1206Y lies within the protein kinase domain of the Alk protein (UniProt.org). S1206Y has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK rearrangements (PMID: 22277784, PMID: 24675041, PMID: 25727400), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK T1151dup duplication unknown ALK T1151dup indicates the insertion of the duplicate amino acid, threonine (T)-1151, in the protein kinase domain of the Alk protein (UniProt.org). T1151dup has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 22277784, PMID: 20695522), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022). Y
ALK T1151K missense unknown ALK T1151K lies within the protein kinase domain and inhibitor binding region of the Alk protein (UniProt.org). T1151K has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 28676215, PMID: 30519133), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Jul 2022). Y
ALK T429I missense unknown ALK T429I lies within the extracellular domain of the Alk protein (UniProt.org). T429I has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK T535N missense unknown ALK T535N lies within MAM domain 2 of the Alk protein (UniProt.org). T535N has been identified in sequencing studies (PMID: 34465320), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2022).
ALK V1180L missense unknown ALK V1180L lies within the protein kinase domain of the Alk protein (UniProt.org). V1180L has been demonstrated to occur as a secondary resistance mutation in the context of EML4-ALK (PMID: 25228534, PMID: 27432227, PMID: 35324529), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022). Y
ALK V1413G missense unknown ALK V1413G lies within the cytoplasmic domain of the Alk protein (UniProt.org). V1413G has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK V163L missense unknown ALK V163L lies within the extracellular domain of the Alk protein (UniProt.org). V163L has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
ALK V198M missense unknown ALK V198M lies within the extracellular domain of the Alk protein (UniProt.org). V198M has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK V66A missense unknown ALK V66A lies within the extracellular domain of the Alk protein (UniProt.org). V66A has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2022).
ALK V66G missense unknown ALK V66G lies within the extracellular domain of the Alk protein (UniProt.org). V66G has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, May 2022).
APC A1225G missense unknown APC A1225G does not lie within any known functional domains of the Apc protein (UniProt.org). A1225G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2022).
APC A1296V missense unknown APC A1296V lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). A1296V has been identified in sequencing studies (PMID: 10666372), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A1305G missense unknown APC A1305G lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). A1305G has been identified in sequencing studies (PMID: 18369740), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A1347T missense unknown APC A1347T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1347T has been identified in sequencing studies (PMID: 22622578, PMID: 25343854), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A1358E missense unknown APC A1358E lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1358E has been identified in sequencing studies (PMID: 10440612), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A1366V missense unknown APC A1366V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1366V has been identified in the scientific literature (PMID: 21901162), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A1446_Q1447insDIA insertion unknown APC A1446_Q1447insDIA results in the insertion of three amino acids in the Apc protein between amino acids 1446 and 1447 (UniProt.org). A1446_Q1447insDIA has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A1470T missense unknown APC A1470T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1470T has been identified in sequencing studies (PMID: 8242071, PMID: 29523763), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A1475V missense unknown APC A1475V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1475V has been identified in sequencing studies (PMID: 18844223), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A1508V missense unknown APC A1508V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1508V has been identified in sequencing studies (PMID: 20569184), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A1553T missense unknown APC A1553T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1553T has been identified in sequencing studies (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC A214V missense unknown APC A214V lies within a coiled-coil domain of the Apc protein (UniProt.org). A214V has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC A2690T missense unknown APC A2690T does not lie within any known functional domains of the Apc protein (UniProt.org). A2690T has been identified in sequencing studies (PMID: 24082139), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC C1410S missense unknown APC C1410S lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). C1410S has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC C1578fs frameshift unknown APC C1578fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1578 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1578fs has been identified in sequencing studies (PMID: 20102718), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1003N missense unknown APC D1003N lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). D1003N has been identified in sequencing studies (PMID: 25545608, PMID: 23085758), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1022G missense unknown APC D1022G lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). D1022G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1058G missense unknown APC D1058G lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). D1058G has been identified in the scientific literature (PMID: 28576136), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1083E missense unknown APC D1083E lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). D1083E has been identified in sequencing studies (PMID: 28576136), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1297A missense unknown APC D1297A lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). D1297A has been identified in sequencing studies (PMID: 17257127), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1422H missense unknown APC D1422H lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1422H has been identified in sequencing studies (PMID: 8221638), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1422N missense unknown APC D1422N lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1422N has been identified in sequencing studies (PMID: 18632876), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1425A missense unknown APC D1425A lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1425A has been identified in sequencing studies (PMID: 8055154), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1566N missense unknown APC D1566N lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1566N has been identified in sequencing studies (PMID: 22864938), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC D1636fs frameshift unknown APC D1636fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1636 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1636fs has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Jun 2022).
APC D2490N missense unknown APC D2490N does not lie within any known functional domains of the Apc protein (UniProt.org). D2490N has been identified in sequencing studies (PMID: 32913981), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC E1284K missense unknown APC E1284K lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1284K has been identified in the scientific literature (PMID: 28352668, PMID: 15072829), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC E1286G missense unknown APC E1286G lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1286G has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC E129Q missense unknown APC E129Q lies within a coiled-coil domain of the Apc protein (UniProt.org). E129Q has been identified in sequencing studies (PMID: 24728327, PMID: 31703593), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC E1306K missense unknown APC E1306K lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1306K has been identified in sequencing studies (PMID: 27311873), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC E1317Q missense unknown APC E1317Q lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1317Q has been identified in the scientific literature (PMID: 14578138, PMID: 32087273), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2022).
APC E1374K missense unknown APC E1374K lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1374K has been identified in sequencing studies (PMID: 27311873, PMID: 26725423), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC E1408V missense unknown APC E1408V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1408V has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC E1494K missense unknown APC E1494K lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1494K has been identified in sequencing studies (PMID: 29137355), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC E1547K missense unknown APC E1547K lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1547K has been identified in sequencing studies (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC G1312R missense unknown APC G1312R lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). G1312R has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC G1339_S1340dup duplication unknown APC G1339_S1340dup indicates the insertion of 2 duplicate amino acids, glycine (G)-1339 through serine (S)-1340, in the Apc protein (UniProt.org). G1339_S1340dup has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC G1499R missense unknown APC G1499R lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). G1499R has been identified in sequencing studies (PMID: 22848674), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC G2303R missense unknown APC G2303R does not lie within any known functional domains of the Apc protein (UniProt.org). G2303R has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC G2502S missense unknown APC G2502S does not lie within any known functional domains of the Apc protein (UniProt.org). G2502S has been identified in the scientific literature (PMID: 18612690, PMID: 24790607, PMID: 20233475), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC G471E missense unknown APC G471E lies within ARM repeat 1 of the Apc protein (UniProt.org). G471E has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC G907R missense unknown APC G907R does not lie within any known functional domains of the Apc protein (UniProt.org). G907R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Jul 2022).
APC H2116R missense unknown APC H2116R does not lie within any known functional domains of the Apc protein (UniProt.org). H2116R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2022).
APC I1913Afs*8 frameshift unknown APC I1913Afs*8 indicates a shift in the reading frame starting at amino acid 1913 and terminating 8 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). I1913Afs*8 has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC I1918V missense unknown APC I1918V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). I1918V has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC I1926M missense unknown APC I1926M lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). I1926M has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC I880T missense unknown APC I880T does not lie within any known functional domains of the Apc protein (UniProt.org). I880T has been identified in sequencing studies (PMID: 9419979), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC K1310D missense unknown APC K1310D lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). K1310D has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC K1817fs frameshift unknown APC K1817fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1817 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1817fs has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC L2253I missense unknown APC L2253I does not lie within any known functional domains of the Apc protein (UniProt.org). L2253I has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC L2401P missense unknown APC L2401P does not lie within any known functional domains of the Apc protein (UniProt.org). L2401P has been identified in sequencing studies (PMID: 28539465), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC L508F missense unknown APC L508F lies within ARM repeat 2 of the Apc protein (UniProt.org). L508F has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC N1118D missense unknown APC N1118D lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). N1118D has been identified in the scientific literature (PMID: 15122587, PMID: 29973652), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC N1142Y missense unknown APC N1142Y lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). N1142Y has been identified in sequencing studies (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC N1819fs frameshift unknown APC N1819fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1819 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N1819fs has been identified in the scientific literature (PMID: 28179481), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC P1076L missense unknown APC P1076L lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). P1076L has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC P1420L missense unknown APC P1420L lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1420L has been identified in sequencing studies (PMID: 16906516, PMID: 27998968), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC P1432H missense unknown APC P1432H lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1432H has been identified in sequencing studies (PMID: 17558858), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC P1453S missense unknown APC P1453S lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1453S has been identified in sequencing studies (PMID: 16906516), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC P1613H missense unknown APC P1613H lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1613H has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC P1613S missense unknown APC P1613S lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1613S has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC Q1096R missense unknown APC Q1096R lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). Q1096R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC Q1429R missense unknown APC Q1429R lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). Q1429R has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC Q1916* nonsense unknown APC Q1916* results in a premature truncation of the Apc protein at amino acid 1916 of 2843 (UniProt.org). Q1916* has been identified in the scientific literature (PMID: 31127692), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC Q1930Nfs*40 frameshift unknown APC Q1930Nfs*40 indicates a shift in the reading frame starting at amino acid 1930 and terminating 40 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). Q1930Nfs*40 has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC Q203E missense unknown APC Q203E lies within a coiled-coil domain of the Apc protein (UniProt.org). Q203E has been identified in sequencing studies (PMID: 34160418), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2022).
APC Q2372* nonsense unknown APC Q2372* results in a premature truncation of the Apc protein at amino acid 2372 of 2843 (UniProt.org). Q2372* has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC R106C missense unknown APC R106C does not lie within any known functional domains of the Apc protein (UniProt.org). R106C has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R1158K missense unknown APC R1158K lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). R1158K has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R1171H missense unknown APC R1171H lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). R1171H has been identified in sequencing studies (PMID: 1338691, PMID: 25886620), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R1399F missense unknown APC R1399F lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). R1399F has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC R1835T missense unknown APC R1835T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). R1835T has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R2204* nonsense unknown APC R2204* results in a premature truncation of the Apc protein at amino acid 2204 of 2843 (UniProt.org). R2204* has been identified in sequencing studies (PMID: 26681737, PMID: 31127692), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC R2237* nonsense unknown APC R2237* results in a premature truncation of the Apc protein at amino acid 2237 of 2843 (UniProt.org). R2237* has been identified in the scientific literature (PMID: 31175091), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC R230C missense unknown APC R230C lies within a coiled-coil domain of the Apc protein (UniProt.org). R230C has been identified in sequencing studies (PMID: 26343386, PMID: 27149842, PMID: 22185227), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R2525C missense unknown APC R2525C does not lie within any known functional domains of the Apc protein (UniProt.org). R2525C has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R2673G missense unknown APC R2673G does not lie within any known functional domains of the Apc protein (UniProt.org). R2673G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R2714C missense unknown APC R2714C does not lie within any known functional domains of the Apc protein (UniProt.org). R2714C has been identified in sequencing studies (PMID: 20579941, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R283Q missense unknown APC R283Q does not lie within any known functional domains of the Apc protein (Uniprot.org). R283Q has been identified in sequencing studies (PMID: 34160418), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC R374W missense unknown APC R374W does not lie within any known functional domains of the Apc protein (UniProt.org). R374W has been identified in sequencing studies (PMID: 29684080), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R653K missense unknown APC R653K lies within ARM repeat 5 of the Apc protein (UniProt.org). R653K has been identified in sequencing studies (PMID: 28179590, PMID: 18199528), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2022).
APC R805Q missense unknown APC R805Q does not lie within any known functional domains of the Apc protein (UniProt.org). R805Q has been identified in sequencing studies (PMID: 31320401), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R876Q missense unknown APC R876Q does not lie within any known functional domains of the Apc protein (UniProt.org). R876Q has been identified in sequencing studies (PMID: 22895193, PMID: 29684080), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC R99W missense unknown APC R99W does not lie within any known functional domains of the Apc protein (UniProt.org). R99W has been identified in sequencing studies (PMID: 34646395, PMID: 36013219), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC S1355P missense unknown APC S1355P lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). S1355P has been identified in sequencing studies (PMID: 17558858, PMID: 29523763), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC S1495I missense unknown APC S1495I lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). S1495I has been identified in sequencing studies (PMID: 21807601, PMID: 27121310), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC S2497L missense unknown APC S2497L does not lie within any known functional domains of the Apc protein (UniProt.org). S2497L has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC S2685G missense unknown APC S2685G does not lie within any known functional domains of the Apc protein (UniProt.org). S2685G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC S590N missense unknown APC S590N lies within ARM repeat 3 of the Apc protein (UniProt.org). S590N has been identified in sequencing studies (PMID: 28002797), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC S940L missense unknown APC S940L does not lie within any known functional domains of the Apc protein (UniProt.org). S940L has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC T1160K missense unknown APC T1160K lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). T1160K has been identified in the scientific literature (PMID: 29212164), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC T1301S missense unknown APC T1301S lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). T1301S has been identified in sequencing studies (PMID: 8118796), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC T518A missense unknown APC T518A lies within ARM repeat 2 of the Apc protein (UniProt.org). T518A has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC T683P missense unknown APC T683P lies within ARM repeat 5 of the Apc protein (UniProt.org). T683P has been identified in sequencing studies (PMID: 29990497), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC V1352A missense unknown APC V1352A lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). V1352A has been identified in sequencing studies (PMID: 26530882, PMID: 29069792), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC V1452I missense unknown APC V1452I lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). V1452I has been identified in sequencing studies (PMID: 27311873, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2022).
APC V1472I missense unknown APC V1472I lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). V1472I has been identified in sequencing studies (PMID: 10666372), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC V1804D missense unknown APC V1804D lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). V1804D has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC V2112I missense unknown APC V2112I does not lie within any known functional domains of the Apc protein (UniProt.org). V2112I has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2022).
APC W685R missense unknown APC W685R lies within ARM repeat 6 of the Apc protein (UniProt.org). W685R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
APC Y158H missense unknown APC Y158H lies within a coiled-coil domain of the Apc protein (UniProt.org). Y158H has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
ATM A1127V missense unknown ATM A1127V does not lie within any known functional domains of the Atm protein (UniProt.org). A1127V has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A1309T missense unknown ATM A1309T does not lie within any known functional domains of the Atm protein (UniProt.org). A1309T has been identified in the scientific literature (PMID: 24886963, PMID: 31552911), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM A1505V missense unknown ATM A1505V does not lie within any known functional domains of the Atm protein (UniProt.org). A1505V has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A1812P missense unknown ATM A1812P does not lie within any known functional domains of the Atm protein (UniProt.org). A1812P has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A1950T missense unknown ATM A1950T lies within the FAT domain of the Atm protein (UniProt.org). A1950T has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A2308T missense unknown ATM A2308T lies within the FAT domain of the Atm protein (UniProt.org). A2308T has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A2420G missense unknown ATM A2420G lies within the FAT domain of the Atm protein (UniProt.org). A2420G has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM A2524P missense unknown ATM A2524P lies within the FAT domain of the Atm protein (UniProt.org). A2524P has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM A2622T missense unknown ATM A2622T does not lie within any known functional domains of the Atm protein (UniProt.org). A2622T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM A2843V missense unknown ATM A2843V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). A2843V has been identified in the scientific literature (PMID: 34911817), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM A3006T missense unknown ATM A3006T does not lie within any known functional domains of the Atm protein (UniProt.org). A3006T has been identified in sequencing studies (PMID: 27147599, PMID: 23415222, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM C430S missense unknown ATM C430S does not lie within any known functional domains of the Atm protein (UniProt.org). C430S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM C532Y missense unknown ATM C532Y does not lie within any known functional domains of the Atm protein (UniProt.org). C532Y has been identified in the scientific literature (PMID: 11756177), but has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM C730Y missense unknown ATM C730Y does not lie within any known functional domains of the Atm protein (UniProt.org). C730Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D126E missense unknown ATM D126E does not lie within any known functional domains of the Atm protein (UniProt.org). D126E has been identified in the scientific literature (PMID: 11443540, PMID: 16520463, PMID: 24793135), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D1285G missense unknown ATM D1285G does not lie within any known functional domains of the Atm protein (UniProt.org). D1285G has been identified in sequencing studies (PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM D1853N missense no effect - predicted ATM D1853N does not lie within any known functional domains of the Atm protein (Uniprot.org). D1853N demonstrates ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
ATM D1963N missense unknown ATM D1963N lies within the FAT domain of the Atm protein (UniProt.org). D1963N has been identified in the scientific literature (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2320N missense unknown ATM D2320N lies within the FAT domain of the Atm protein (UniProt.org). D2320N has been identified in sequencing studies (PMID: 26314984), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM D2395V missense unknown ATM D2395V lies within the FAT domain of the Atm protein (UniProt.org). D2395V has been identified in sequencing studies (PMID: 22952040), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM D2448A missense unknown ATM D2448A lies within the FAT domain of the Atm protein (UniProt.org). D2448A has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2448G missense unknown ATM D2448G lies within the FAT domain of the Atm protein (UniProt.org). D2448G has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM D2625_A2626delinsEP indel unknown ATM D2625_A2626delinsEP results in a deletion of an aspartic acid (D) and an alanine (A) from aa 2625 to aa 2626 of the Atm protein, combined with the insertion of a glutamic acid (E) and a proline (P) at the same site (UniProt.org). D2625_A2626delinsEP has been identified in the scientific literature (PMID: 31963394), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM D2720H missense unknown ATM D2720H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2720H has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2720N missense unknown ATM D2720N lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2720N has been identified in sequencing studies (PMID: 27147599, PMID: 33054084), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2022).
ATM D2721N missense unknown ATM D2721N lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2721N has been identified in sequencing studies (PMID: 30836094, PMID: 24069199, PMID: 27959900), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2721Y missense unknown ATM D2721Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2721Y has been identified in sequencing studies (PMID: 26675346, PMID: 10939806), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2725G missense unknown ATM D2725G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2725G has been identified in the scientific literature (PMID: 29906251), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2725V missense unknown ATM D2725V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2725V has been identified in sequencing studies (PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D2870Y missense unknown ATM D2870Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2870Y has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D351Y missense unknown ATM D351Y does not lie within any known functional domains of the Atm protein (UniProt.org). D351Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM D983N missense unknown ATM D983N does not lie within any known functional domains of the Atm protein (UniProt.org). D983N has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM E1959K missense unknown ATM E1959K lies within the FAT domain of the Atm protein (UniProt.org). E1959K has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM E2164G missense unknown ATM E2164G lies within the FAT domain of the Atm protein (UniProt.org). E2164G has been identified in sequencing studies (PMID: 30503610, PMID: 26878173), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM E2294G missense unknown ATM E2294G lies within the FAT domain of the Atm protein (UniProt.org). E2294G has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM E2904K missense unknown ATM E2904K lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). E2904K has been identified in sequencing studies (PMID: 28667006, PMID: 29360550), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM E848Q missense unknown ATM E848Q does not lie within any known functional domains of the Atm protein (UniProt.org). E848Q has been identified in the scientific literature (PMID: 27602502), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM E871K missense unknown ATM E871K does not lie within any known functional domains of the Atm protein (UniProt.org). E871K has been identified in sequencing studies (PMID: 30239046, PMID: 28487787), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F1683V missense unknown ATM F1683V does not lie within any known functional domains of the Atm protein (UniProt.org). F1683V has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F168L missense unknown ATM F168L does not lie within any known functional domains of the Atm protein (UniProt.org). F168L has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F2140V missense unknown ATM F2140V lies within the FAT domain of the Atm protein (UniProt.org). F2140V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F2516C missense unknown ATM F2516C lies within the FAT domain of the Atm protein (UniProt.org). F2516C has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM F2839L missense unknown ATM F2839L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). F2839L has been identified in sequencing studies (PMID: 24951259, PMID: 25957691), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F570L missense unknown ATM F570L does not lie within any known functional domains of the Atm protein (UniProt.org). F570L has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F582L missense unknown ATM F582L does not lie within any known functional domains of the Atm protein (UniProt.org). F582L has been identified in the scientific literature (PMID: 14695997, PMID: 16574953, PMID: 25625042), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM F897I missense unknown ATM F897I does not lie within any known functional domains of the Atm protein (UniProt.org). F897I has been identified in sequencing studies (PMID: 28652578, PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G1459R missense unknown ATM G1459R does not lie within any known functional domains of the Atm protein (UniProt.org). G1459R has been identified in sequencing studies (PMID: 26214590, PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G2023R missense unknown ATM G2023R lies within the FAT domain of the Atm protein (UniProt.org). G2023R has been identified in the scientific literature (PMID: 25625042, PMID: 12149228, PMID: 23091097), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G2694R missense unknown ATM G2694R does not lie within any known functional domains of the Atm protein (UniProt.org). G2694R has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G2695A missense unknown ATM G2695A does not lie within any known functional domains of the Atm protein (UniProt.org). G2695A has been identified in sequencing studies (PMID: 23407552, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G2695C missense unknown ATM G2695C does not lie within any known functional domains of the Atm protein (UniProt.org). G2695C has been identified in sequencing studies (PMID: 31164343, PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G2695S missense unknown ATM G2695S does not lie within any known functional domains of the Atm protein (UniProt.org). G2695S has been identified in sequencing studies (PMID: 25885250, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM G2891R missense unknown ATM G2891R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2891R has been identified in sequencing studies (PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM G514D missense unknown ATM G514D does not lie within any known functional domains of the Atm protein (UniProt.org). G514D has been identified in sequencing studies (PMID: 24728327, PMID: 11443540, PMID: 12473594), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM H2038D missense unknown ATM H2038D lies within the FAT domain of the Atm protein (UniProt.org). H2038D has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM H2038R missense unknown ATM H2038R lies within the FAT domain of the Atm protein (UniProt.org). H2038R has been identified in the scientific literature (PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM H2872Q missense unknown ATM H2872Q lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872Q has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM H2872R missense unknown ATM H2872R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872R has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM I124V missense unknown ATM I124V does not lie within any known functional domains of the Atm protein (UniProt.org). I124V has been identified in sequencing studies (PMID: 12673804, PMID: 28076423), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM I2888L missense unknown ATM I2888L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888L has been identified in sequencing studies (PMID: 26487540), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM I2888M missense unknown ATM I2888M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888M has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM I2888T missense unknown ATM I2888T lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888T has been identified in the scientific literature (PMID: 12697903, PMID: 23091097, PMID: 33975862), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM I323V missense unknown ATM I323V does not lie within any known functional domains of the Atm protein (UniProt.org). I323V has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM K1964E missense unknown ATM K1964E lies within the FAT domain of the Atm protein (UniProt.org). K1964E has been identified in sequencing studies (PMID: 26675346, PMID: 12810666), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM K3018Q missense unknown ATM K3018Q does not lie within any known functional domains of the Atm protein (UniProt.org). K3018Q has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM K3043R missense unknown ATM K3043R lies within the FATC domain of the Atm protein (UniProt.org). K3043R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L100W missense unknown ATM L100W does not lie within any known functional domains of the Atm protein (UniProt.org). L100W has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1046R missense unknown ATM L1046R does not lie within any known functional domains of the Atm protein (UniProt.org). L1046R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1408F missense unknown ATM L1408F does not lie within any known functional domains of the Atm protein (UniProt.org). L1408F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1408I missense unknown ATM L1408I does not lie within any known functional domains of the Atm protein (UniProt.org). L1408I has been identified in sequencing studies (PMID: 29107334, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1439I missense unknown ATM L1439I does not lie within any known functional domains of the Atm protein (UniProt.org). L1439I has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1675F missense unknown ATM L1675F does not lie within any known functional domains of the Atm protein (UniProt.org). L1675F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L1939V missense unknown ATM L1939V does not lie within any known functional domains of the Atm protein (UniProt.org). L1939V has been identified in sequencing studies (PMID: 20054297, PMID: 30814645), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2077I missense unknown ATM L2077I lies within the FAT domain of the Atm protein (UniProt.org). L2077I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2307F missense unknown ATM L2307F lies within the FAT domain of the Atm protein (UniProt.org). L2307F has been identified in the scientific literature (PMID: 28652578, PMID: 25625042, PMID: 32393777), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2332P missense unknown ATM L2332P lies within the FAT domain of the Atm protein (UniProt.org). L2332P has been identified in the scientific literature (PMID: 25625042, PMID: 12673804), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM L2492R missense unknown ATM L2492R lies within the FAT domain of the Atm protein (UniProt.org). L2492R has been identified in sequencing studies (PMID: 29449575, PMID: 30181556, PMID: 33151258), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2561M missense unknown ATM L2561M lies within the FAT domain of the Atm protein (UniProt.org). L2561M has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L259I missense unknown ATM L259I does not lie within any known functional domains of the Atm protein (UniProt.org). L259I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2722M missense unknown ATM L2722M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2722M has been identified in sequencing studies (PMID: 27491810, PMID: 25326804), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2780R missense unknown ATM L2780R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2780R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2877F missense unknown ATM L2877F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2877F has been identified in the scientific literature (PMID: 27206246), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L2995I missense unknown ATM L2995I does not lie within any known functional domains of the Atm protein (UniProt.org). L2995I has been identified in sequencing studies (PMID: 27997549, PMID: 27363283), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L348_M349insYIV insertion unknown ATM L348_M349insYIV results in the insertion of three amino acids in the Atm protein between amino acids 348 and 349 (UniProt.org). L348_M349insYIV has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L694R missense unknown ATM L694R does not lie within any known functional domains of the Atm protein (UniProt.org). L694R has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM L822V missense unknown ATM L822V does not lie within any known functional domains of the Atm protein (UniProt.org). L822V has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L942I missense unknown ATM L942I does not lie within any known functional domains of the Atm protein (UniProt.org). L942I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM L991S missense unknown ATM L991S does not lie within any known functional domains of the Atm protein (UniProt.org). L991S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM M2405L missense unknown ATM M2405L lies within the FAT domain of the Atm protein (UniProt.org). M2405L has been identified in sequencing studies (PMID: 22952040), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM M2531T missense unknown ATM M2531T lies within the FAT domain of the Atm protein (UniProt.org). M2531T has been identified in sequencing studies (PMID: 27978560, PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM M349K missense unknown ATM M349K does not lie within any known functional domains of the Atm protein (UniProt.org). M349K has been identified in the scientific literature (PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM N1356D missense unknown ATM N1356D does not lie within any known functional domains of the Atm protein (UniProt.org). N1356D has been identified in sequencing studies (PMID: 19781682, PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM N2603S missense unknown ATM N2603S does not lie within any known functional domains of the Atm protein (UniProt.org). N2603S has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM N2875S missense unknown ATM N2875S lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875S has been identified in the scientific literature (PMID: 25232094, PMID: 30730459), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM N2875T missense unknown ATM N2875T lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875T has been identified in sequencing studies (PMID: 22634756), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM N914S missense unknown ATM N914S does not lie within any known functional domains of the Atm protein (UniProt.org). N914S has been identified in sequencing studies (PMID: 29107334, PMID: 28652578), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P178S missense unknown ATM P178S does not lie within any known functional domains of the Atm protein (UniProt.org). P178S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P2353H missense unknown ATM P2353H lies within the FAT domain of the Atm protein (UniProt.org). P2353H has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P2353T missense unknown ATM P2353T lies within the FAT domain of the Atm protein (UniProt.org). P2353T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P2665T missense unknown ATM P2665T does not lie within any known functional domains of the Atm protein (UniProt.org). P2665T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P2842L missense unknown ATM P2842L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). P2842L has been identified in sequencing studies (PMID: 24185509, PMID: 27959900), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P631S missense unknown ATM P631S does not lie within any known functional domains of the Atm protein (UniProt.org). P631S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM P80S missense unknown ATM P80S does not lie within any known functional domains of the Atm protein (UniProt.org). P80S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM Q1128R missense unknown ATM Q1128R does not lie within any known functional domains of the Atm protein (UniProt.org). Q1128R has been identified in the scientific literature (PMID: 35031544, PMID: 35078817), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM Q1537R missense unknown ATM Q1537R does not lie within any known functional domains of the Atm protein (UniProt.org). Q1537R has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM Q1919P missense unknown ATM Q1919P does not lie within any known functional domains of the Atm protein (UniProt.org). Q1919P has been identified in the scientific literature (PMID: 34911817), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Q2066L missense unknown ATM Q2066L lies within the FAT domain of the Atm protein (UniProt.org). Q2066L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM Q2442P missense unknown ATM Q2442P lies within the FAT domain of the Atm protein (UniProt.org). Q2442P has been identified in sequencing studies (PMID: 26316624, PMID: 22634756), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM Q2729H missense unknown ATM Q2729H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2729H has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM Q2762R missense unknown ATM Q2762R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2762R has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM Q2809P missense unknown ATM Q2809P lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2809P has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM Q3038* nonsense unknown ATM Q3038* results in a premature truncation of the Atm protein at amino acid 3038 of 3056 (UniProt.org). Q3038* has not been characterized in the scientific literature, and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM R1150I missense unknown ATM R1150I does not lie within any known functional domains of the Atm protein (UniProt.org). R1150I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R1466Q missense unknown ATM R1466Q does not lie within any known functional domains of the Atm protein (UniProt.org). R1466Q has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R1730Q missense unknown ATM R1730Q does not lie within any known functional domains of the Atm protein (UniProt.org). R1730Q has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R1918T missense unknown ATM R1918T does not lie within any known functional domains of the Atm protein (UniProt.org). R1918T has been identified in sequencing studies (PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R221I missense unknown ATM R221I does not lie within any known functional domains of the Atm protein (UniProt.org). R221I has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R23Q missense unknown ATM R23Q does not lie within any known functional domains of the Atm protein (UniProt.org). R23Q has been identified in sequencing studies (PMID: 26214590), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R2443P missense unknown ATM R2443P lies within the FAT domain of the Atm protein (UniProt.org). R2443P has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R2443Q missense unknown ATM R2443Q lies within the FAT domain of the Atm protein (UniProt.org). R2443Q has been identified in sequencing studies (PMID: 27693639, PMID: 27175599), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R248Q missense unknown ATM R248Q does not lie within any known functional domains of the Atm protein (UniProt.org). R248Q has been identified in sequencing studies (PMID: 24145436, PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM R2526S missense unknown ATM R2526S lies within the FAT domain of the Atm protein (UniProt.org). R2526S has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM R2598Q missense unknown ATM R2598Q does not lie within any known functional domains of the Atm protein (UniProt.org). R2598Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM R2691C missense loss of function - predicted ATM R2691C does not lie within any known functional domains of the Atm protein (UniProt.org). R2691C results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and via structural modeling, demonstrates potential for impaired kinase activity of Atm (PMID: 21993670), and therefore, is predicted to lead to a loss of Atm protein function.
ATM R2854C missense unknown ATM R2854C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). R2854C has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
ATM R337C missense unknown ATM R337C does not lie within any known functional domains of the Atm protein (UniProt.org). R337C has been identified in sequencing studies (PMID: 30181556, PMID: 29335443, PMID: 27334835), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM R337H missense unknown ATM R337H does not lie within any known functional domains of the Atm protein (UniProt.org). R337H has been identified in the scientific literature (PMID: 28480077, PMID: 30181556, PMID: 27749841), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM R832C missense unknown ATM R832C does not lie within any known functional domains of the Atm protein (UniProt.org). R832C has been identified in the scientific literature (PMID: 33181636), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S2017T missense unknown ATM S2017T lies within the FAT domain of the Atm protein (UniProt.org). S2017T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM S2489F missense unknown ATM S2489F lies within the FAT domain of the Atm protein (UniProt.org). S2489F has been identified in sequencing studies (PMID: 24145436, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S2812Y missense unknown ATM S2812Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). S2812Y has been identified in sequencing studies (PMID: 27304073), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S2859F missense unknown ATM S2859F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). S2859F has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S3001N missense unknown ATM S3001N does not lie within any known functional domains of the Atm protein (UniProt.org). S3001N has been identified in sequencing studies (PMID: 34646395), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
ATM S3027I missense unknown ATM S3027I lies within the FATC domain of the Atm protein (UniProt.org). S3027I has been identified in the scientific literature (PMID: 32265839), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S333F missense unknown ATM S333F does not lie within any known functional domains of the Atm protein (UniProt.org). S333F has been identified in the scientific literature (PMID: 32664330), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S707P missense unknown ATM S707P does not lie within any known functional domains of the Atm protein (UniProt.org). S707P has been associated with a modest increased risk of breast cancer (PMID: 20826828), and results in decreased Atm protein expression in cultured cells (PMID: 31664505), but has not been fully biochemically characterized and therefore, its effect on Atm protein function is unknown.
ATM S978A missense unknown ATM S978A does not lie within any known functional domains of the Atm protein (UniProt.org). S978A has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S978C missense unknown ATM S978C does not lie within any known functional domains of the Atm protein (UniProt.org). S978C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S978P missense unknown ATM S978P does not lie within any known functional domains of the Atm protein (UniProt.org). S978P has been identified in sequencing studies (PMID: 16631465), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM S99G missense unknown ATM S99G does not lie within any known functional domains of the Atm protein (UniProt.org). S99G has been identified in sequencing studies (PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T1350M missense unknown ATM T1350M does not lie within any known functional domains of the Atm protein (UniProt.org). T1350M has been identified in sequencing studies (PMID: 30181556, PMID: 28119368), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T1756I missense unknown ATM T1756I does not lie within any known functional domains of the Atm protein (UniProt.org). T1756I has been identified in the scientific literature (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T1880R missense unknown ATM T1880R does not lie within any known functional domains of the Atm protein (UniProt.org). T1880R has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T2743M missense unknown ATM T2743M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). T2743M has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T2934I missense unknown ATM T2934I lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). T2934I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T593del deletion unknown ATM T593del results in the deletion of an amino acid in the Atm protein (UniProt.org). T593del has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM T86I missense unknown ATM T86I does not lie within any known functional domains of the Atm protein (UniProt.org). T86I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM V1570A missense unknown ATM V1570A does not lie within any known functional domains of the Atm protein (UniProt.org). V1570A has been identified in sequencing studies (PMID: 11606401, PMID: 32659497, PMID: 33134171), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2022).
ATM V1671D missense unknown ATM V1671D does not lie within any known functional domains of the Atm protein (UniProt.org). V1671D has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V2439A missense unknown ATM V2439A lies within the FAT domain of the Atm protein (UniProt.org). V2439A has been identified in sequencing studies (PMID: 12810666), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V2727A missense unknown ATM V2727A lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2727A has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V2731G missense unknown ATM V2731G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2731G has been identified in the scientific literature (PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V2951F missense unknown ATM V2951F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2951F has been identified in sequencing studies (PMID: 22832583), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V410A missense unknown ATM V410A does not lie within any known functional domains of the Atm protein (UniProt.org). V410A has been identified in the scientific literature (PMID: 29906251, PMID: 25148578, PMID: 14695997), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V60F missense unknown ATM V60F does not lie within any known functional domains of the Atm protein (UniProt.org). V60F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM V630M missense unknown ATM V630M does not lie within any known functional domains of the Atm protein (UniProt.org). V630M has been identified in sequencing studies (PMID: 27468087), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2022).
ATM W2845C missense unknown ATM W2845C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). W2845C has been identified in sequencing studies (PMID: 25186949), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM W3052C missense unknown ATM W3052C lies within the FATC domain of the Atm protein (UniProt.org). W3052C has been identified in sequencing studies (PMID: 26837699), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Y1124F missense unknown ATM Y1124F does not lie within any known functional domains of the Atm protein (UniProt.org). Y1124F has been identified in sequencing studies (PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Y2398C missense unknown ATM Y2398C lies within the FAT domain of the Atm protein (UniProt.org). Y2398C has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Y2437C missense unknown ATM Y2437C lies within the FAT domain of the Atm protein (UniProt.org). Y2437C has been identified in sequencing studies (PMID: 10939806, PMID: 31552911), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Y2437S missense unknown ATM Y2437S lies within the FAT domain of the Atm protein (UniProt.org). Y2437S has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Y2755C missense unknown ATM Y2755C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Y2755C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATM Y2954C missense unknown ATM Y2954C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Y2954C has been identified in sequencing studies (PMID: 22634756, PMID: 23415222, PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
ATR A1896D missense unknown ATR A1896D lies within the FAT domain of the Atr protein (UniProt.org). A1896D has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR A1896T missense unknown ATR A1896T lies within the FAT domain of the Atr protein (UniProt.org). A1896T has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR A1934D missense unknown ATR A1934D lies within the FAT domain of the Atr protein (UniProt.org). A1934D has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR A2002G missense unknown ATR A2002G lies within the FAT domain of the Atr protein (UniProt.org). A2002G has been identified in sequencing studies (PMID: 29681454, PMID: 17344846, PMID: 16140923), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR A2165V missense unknown ATR A2165V lies within the FAT domain of the Atr protein (UniProt.org). A2165V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR D1380Y missense unknown ATR D1380Y does not lie within any known functional domains of the Atr protein (UniProt.org). D1380Y has not been characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR D1470N missense unknown ATR D1470N does not lie within any known functional domains of the Atr protein (UniProt.org). D1470N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR D155E missense unknown ATR D155E does not lie within any known functional domains of the Atr protein (UniProt.org). D155E has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR D1560N missense unknown ATR D1560N does not lie within any known functional domains of the Atr protein (UniProt.org). D1560N has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR D2118N missense unknown ATR D2118N lies within the FAT domain of the Atr protein (UniProt.org). D2118N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR D2331Y missense unknown ATR D2331Y lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). D2331Y has been identified in the scientific literature (PMID: 30957057, PMID: 29530932), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR D983N missense unknown ATR D983N does not lie within any known functional domains of the Atr protein (UniProt.org). D983N has been identified in sequencing studies (PMID: 27149842, PMID: 25344691, PMID: 25186949), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E1375G missense unknown ATR E1375G does not lie within any known functional domains of the Atr protein (UniProt.org). E1375G has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E1602D missense unknown ATR E1602D does not lie within any known functional domains of the Atr protein (UniProt.org). E1602D has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E2011K missense unknown ATR E2011K lies within the FAT domain of the Atr protein (UniProt.org). E2011K has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E2103A missense unknown ATR E2103A lies within the FAT domain of the Atr protein (UniProt.org). E2103A has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E2378V missense unknown ATR E2378V lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). E2378V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E254G missense unknown ATR E254G does not lie within any known functional domains of the Atr protein (UniProt.org). E254G has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR E2626* nonsense unknown ATR E2626* results in a premature truncation of the Atr protein at amino acid 2626 of 2644 (UniProt.org). E2626* has been identified in sequencing studies (PMID: 34568053), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR F732L missense unknown ATR F732L does not lie within any known functional domains of the Atr protein (UniProt.org). F732L has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR G1181C missense unknown ATR G1181C does not lie within any known functional domains of the Atr protein (UniProt.org). G1181C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR G1181F missense unknown ATR G1181F does not lie within any known functional domains of the Atr protein (UniProt.org). G1181F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR G1181S missense unknown ATR G1181S does not lie within any known functional domains of the Atr protein (UniProt.org). G1181S has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR G1181V missense unknown ATR G1181V does not lie within any known functional domains of the Atr protein (UniProt.org). G1181V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR G2530C missense unknown ATR G2530C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). G2530C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR H2153R missense unknown ATR H2153R lies within the FAT domain of the Atr protein (UniProt.org). H2153R has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR H2203N missense unknown ATR H2203N does not lie within any known functional domains of the Atr protein (UniProt.org). H2203N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR H4R missense unknown ATR H4R does not lie within any known functional domains of the Atr protein (UniProt.org). H4R has been identified in the scientific literature (PMID: 33773808), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR H90Y missense unknown ATR H90Y does not lie within any known functional domains of the Atr protein (UniProt.org). H90Y has been identified in sequencing studies (PMID: 29793804, PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR I1526V missense unknown ATR I1526V does not lie within any known functional domains of the Atr protein (UniProt.org). I1526V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR I1831S missense unknown ATR I1831S lies within the FAT domain of the Atr protein (UniProt.org). I1831S has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR I1851V missense unknown ATR I1851V lies within the FAT domain of the Atr protein (UniProt.org). I1851V has been identified in sequencing studies (PMID: 24755471, PMID: 31513681), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR I219V missense unknown ATR I219V does not lie within any known functional domains of the Atr protein (UniProt.org). I219V has been identified in the scientific literature (PMID: 33773808), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR K2221E missense unknown ATR K2221E does not lie within any known functional domains of the Atr protein (UniProt.org). K2221E has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR K2310N missense unknown ATR K2310N does not lie within any known functional domains of the Atr protein (UniProt.org). K2310N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR K297N missense unknown ATR K297N does not lie within any known functional domains of the Atr protein (UniProt.org). K297N has been identified in sequencing studies (PMID: 25528188, PMID: 31874108), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR K764E missense unknown ATR K764E does not lie within any known functional domains of the Atr protein (UniProt.org). K764E has been identified in sequencing studies (PMID: 28522871, PMID: 31874108), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR L1361V missense unknown ATR L1361V lies within HEAT repeat 2 of the Atr protein (UniProt.org). L1361V has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR L1397M missense unknown ATR L1397M does not lie within any known functional domains of the Atr protein (UniProt.org). L1397M has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR L1707I missense unknown ATR L1707I lies within the FAT domain of the Atr protein (UniProt.org). L1707I has been identified in sequencing studies (PMID: 30836094), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR L1746I missense unknown ATR L1746I lies within the FAT domain of the Atr protein (UniProt.org). L1746I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR L1834F missense unknown ATR L1834F lies within the FAT domain of the Atr protein (UniProt.org). L1834F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR L2076V missense unknown ATR L2076V lies within the FAT domain of the Atr protein (UniProt.org). L2076V has been identified in sequencing studies (PMID: 27997549), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR L2306F missense unknown ATR L2306F does not lie within any known functional domains of the Atr protein (UniProt.org). L2306F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR L2593I missense unknown ATR L2593I does not lie within any known functional domains of the Atr protein (UniProt.org). L2593I has been identified in sequencing studies (PMID: 29316426), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR L298R missense unknown ATR L298R does not lie within any known functional domains of the Atr protein (UniProt.org). L298R has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR M211I missense unknown ATR M211I does not lie within any known functional domains of the Atr protein (UniProt.org). M211I has been identified in sequencing studies (PMID: 31173267), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR M211T missense unknown ATR M211T does not lie within any known functional domains of the Atr protein (UniProt.org). M211T has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR M328V missense unknown ATR M328V does not lie within any known functional domains of the Atr protein (UniProt.org). M328V has been identified in sequencing studies (PMID: 27248819), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR M335I missense unknown ATR M335I does not lie within any known functional domains of the Atr protein (UniProt.org). M335I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR P1530Q missense unknown ATR P1530Q does not lie within any known functional domains of the Atr protein (UniProt.org). P1530Q has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR Q1732L missense unknown ATR Q1732L lies within the FAT domain of the Atr protein (UniProt.org). Q1732L has been identified in sequencing studies (PMID: 32982275), but has not been biochemically characterized and therefore, its effect on Akt1 protein function is unknown (PubMed, May 2022).
ATR Q2635H missense unknown ATR Q2635H lies within the FATC domain of the Atr protein (UniProt.org). Q2635H has been identified in sequencing studies (PMID: 27502118), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R1015Q missense unknown ATR R1015Q does not lie within any known functional domains of the Atr protein (UniProt.org). R1015Q has been identified in sequencing studies (PMID: 30239046, PMID: 30200630, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R1025C missense unknown ATR R1025C does not lie within any known functional domains of the Atr protein (UniProt.org). R1025C has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R109L missense unknown ATR R109L does not lie within any known functional domains of the Atr protein (UniProt.org). R109L has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R109W missense unknown ATR R109W does not lie within any known functional domains of the Atr protein (UniProt.org). R109W has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R1183Q missense unknown ATR R1183Q does not lie within any known functional domains of the Atr protein (UniProt.org). R1183Q has been identified in sequencing studies (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R1201C missense unknown ATR R1201C does not lie within any known functional domains of the Atr protein (UniProt.org). R1201C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R1412Q missense unknown ATR R1412Q does not lie within any known functional domains of the Atr protein (UniProt.org). R1412Q has been identified in sequencing studies (PMID: 30181556, PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R1647C missense unknown ATR R1647C lies within the FAT domain of the Atr protein (UniProt.org). R1647C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R1724M missense unknown ATR R1724M lies within the FAT domain of the Atr protein (UniProt.org). R1724M has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
ATR R177Q missense unknown ATR R177Q does not lie within any known functional domains of the Atr protein (UniProt.org). R177Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R1886Q missense unknown ATR R1886Q lies within the FAT domain of the Atr protein (UniProt.org). R1886Q has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R2356C missense unknown ATR R2356C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2356C has been identified in sequencing studies (PMID: 30239046, PMID: 25159915), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R2407C missense unknown ATR R2407C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2407C has been identified in sequencing studies (PMID: 28292439), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R2407H missense unknown ATR R2407H lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2407H has been identified in sequencing studies (PMID: 26845104, PMID: 24192927), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R2425Q missense unknown ATR R2425Q lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2425Q has been identified in the scientific literature (PMID: 31748433, PMID: 27693639), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R2514C missense unknown ATR R2514C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2514C has been identified in sequencing studies (PMID: 30239046, PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR R515H missense unknown ATR R515H does not lie within any known functional domains of the Atr protein (UniProt.org). R515H has been identified in sequencing studies (PMID: 30181556, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR R968I missense unknown ATR R968I does not lie within any known functional domains of the Atr protein (UniProt.org). R968I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR S1142G missense unknown ATR S1142G does not lie within any known functional domains of the Atr protein (UniProt.org). S1142G has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR S1325C missense unknown ATR S1325C does not lie within any known functional domains of the Atr protein (UniProt.org). S1325C has been identified in sequencing studies (PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR S1325N missense unknown ATR S1325N does not lie within any known functional domains of the Atr protein (UniProt.org). S1325N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR S1645F missense unknown ATR S1645F lies within the FAT domain of the Atr protein (UniProt.org). S1645F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR S601F missense loss of function ATR S601F does not lie within any known functional domains of the Atr protein (UniProt.org). S601F confers a loss of function to the Atr protein as indicated by decreased Chk1 phosphorylation induced by UVB irradiation in culture (PMID: 28273450).
ATR S684Y missense unknown ATR S684Y does not lie within any known functional domains of the Atr protein (UniProt.org). S684Y has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR S902Y missense unknown ATR S902Y does not lie within any known functional domains of the Atr protein (UniProt.org). S902Y has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR T1401A missense unknown ATR T1401A does not lie within any known functional domains of the Atr protein (UniProt.org). T1401A has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR T2516I missense unknown ATR T2516I lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). T2516I has been identified in sequencing studies (PMID: 25759019), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR T2580N missense unknown ATR T2580N does not lie within any known functional domains of the Atr protein (UniProt.org). T2580N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR T541I missense unknown ATR T541I does not lie within any known functional domains of the Atr protein (UniProt.org). T541I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR V316I missense unknown ATR V316I does not lie within any known functional domains of the Atr protein (UniProt.org). V316I has been identified in sequencing studies (PMID: 25589003), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR V915A missense unknown ATR V915A does not lie within any known functional domains of the Atr protein (UniProt.org). V915A has not been characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR V959M missense unknown ATR V959M does not lie within any known functional domains of the Atr protein (UniProt.org). V959M has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR W1591L missense unknown ATR W1591L does not lie within any known functional domains of the Atr protein (UniProt.org). W1591L has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR W2035C missense unknown ATR W2035C lies within the FAT domain of the Atr protein (UniProt.org). W2035C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
ATR Y2132D missense unknown ATR Y2132D lies within the FAT domain of the Atr protein (UniProt.org). Y2132D has been identified in sequencing studies (PMID: 17344846, PMID: 25589003, PMID: 31874108), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
ATR Y2637C missense unknown ATR Y2637C lies within the FATC domain of the Atr protein (UniProt.org). Y2637C has been identified in sequencing studies (PMID: 29884412, PMID: 25275298, PMID: 25151357), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2022).
AXL A273V missense unknown AXL A273V lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). A273V has been associated with resistance to EGFR inhibitors (Cancer Res 2018;78(13 Suppl): nr 4903), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Jun 2022). Y
AXL A674V missense unknown AXL A674V lies within the protein kinase domain of the Axl protein (UniProt.org). A674V has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL C117R missense unknown AXL C117R lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). C117R has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL C311F missense unknown AXL C311F lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). C311F induces similar cell proliferation and cell viability as wild-type Axl in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL D382G missense unknown AXL D382G lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). D382G has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL E388D missense unknown AXL E388D lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). E388D has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL E524K missense unknown AXL E524K lies within the cytoplasmic domain of the Axl protein (UniProt.org). E524K has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL E818K missense unknown AXL E818K lies within the cytoplasmic domain of the Axl protein (UniProt.org). E818K has been identified in the scientific literature (PMID: 25452114), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL F631S missense unknown AXL F631S lies within the protein kinase domain of the Axl protein (UniProt.org). F631S has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL F652L missense unknown AXL F652L lies within the protein kinase domain of the Axl protein (UniProt.org). F652L has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G331A missense unknown AXL G331A lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). G331A has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G413W missense unknown AXL G413W lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). G413W has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G415A missense unknown AXL G415A lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). G415A has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G46V missense unknown AXL G46V lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). G46V has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G517S missense unknown AXL G517S lies within the cytoplasmic domain of the Axl protein (UniProt.org). G517S has been identified in sequencing studies (PMID: 18056464, PMID: 29681454), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G692R missense unknown AXL G692R lies within the protein kinase domain of the Axl protein (UniProt.org). G692R has been identified in sequencing studies (PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G736R missense unknown AXL G736R lies within the protein kinase domain of the Axl protein (UniProt.org). G736R has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G73V missense unknown AXL G73V lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). G73V has been identified in sequencing studies (PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL G89D missense unknown AXL G89D lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). G89D has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL H670Q missense unknown AXL H670Q lies within the protein kinase domain of the Axl protein (UniProt.org). H670Q has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL I466L missense unknown AXL I466L lies within the transmembrane domain of the Axl protein (UniProt.org). I466L has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL I619V missense unknown AXL I619V lies within the protein kinase domain of the Axl protein (UniProt.org). I619V has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL I656N missense unknown AXL I656N lies within the protein kinase domain of the Axl protein (UniProt.org). I656N has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL I758M missense unknown AXL I758M lies within the protein kinase domain of the Axl protein (UniProt.org). I758M has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL K476T missense unknown AXL K476T lies within the cytoplasmic domain of the Axl protein (UniProt.org). K476T has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL L455I missense unknown AXL L455I lies within the transmembrane domain of the Axl protein (UniProt.org). L455I has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL L54F missense unknown AXL L54F lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). L54F has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL L54I missense unknown AXL L54I lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). L54I has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL L693P missense unknown AXL L693P lies within the protein kinase domain of the Axl protein (UniProt.org). L693P has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL L721P missense unknown AXL L721P lies within the protein kinase domain of the Axl protein (UniProt.org). L721P has not been characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL M569I missense unknown AXL M569I lies within the protein kinase domain of the Axl protein (UniProt.org). M569I has been identified in sequencing studies (PMID: 18056464), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL M589K missense unknown AXL M589K lies within the protein kinase domain of the Axl protein (UniProt.org). M589K has been identified in sequencing studies (PMID: 27573823), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL N266D missense unknown AXL N266D lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). N266D has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Apr 2022).
AXL N43T missense unknown AXL N43T lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). N43T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL N677I missense unknown AXL N677I lies within the protein kinase domain of the Axl protein (UniProt.org). N677I has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL P168S missense unknown AXL P168S lies within Ig-like C2-type domain 2 of the Axl protein (UniProt.org). P168S has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL P595S missense unknown AXL P595S lies within the protein kinase domain of the Axl protein (UniProt.org). P595S has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL P645H missense unknown AXL P645H lies within the protein kinase domain of the Axl protein (UniProt.org). P654H has been identified in sequencing studies (PMID: 21097718), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Jun 2022).
AXL P64S missense unknown AXL P64S lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). P64S has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL P811S missense unknown AXL P811S lies within the cytoplasmic domain of the Axl protein (UniProt.org). P811S has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL Q59H missense unknown AXL Q59H lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). Q59H has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL Q764R missense unknown AXL Q764R lies within the protein kinase domain of the Axl protein (UniProt.org). Q764R has been identified in the scientific literature (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL Q83R missense unknown AXL Q83R lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). Q83R induces similar cell proliferation and cell viability as wild-type Axl in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R217H missense unknown AXL R217H lies within Ig-like C2-type domain 2 of the Axl protein (UniProt.org). R217H has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R229C missense unknown AXL R229C lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). R229C has not been characterized and therefore, its effect on Axl protein function is unknown (PubMed, Jun 2022).
AXL R295W missense unknown AXL R295W lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). R295W has been identified in sequencing studies (PMID: 27592799, PMID: 16140923), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R308C missense unknown AXL R308C lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). R308C has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R357W missense unknown AXL R357W lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). R357W has been identified in sequencing studies (PMID: 27507618), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R368Q missense unknown AXL R368Q lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). R368Q has been identified in sequencing studies (PMID: 22722839, PMID: 34465320), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R368W missense unknown AXL R368W lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). R368W has been identified in sequencing studies (PMID: 25922291), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R427C missense unknown AXL R427C lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). R427C has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R475Q missense unknown AXL R475Q lies within the cytoplasmic domain of the Axl protein (UniProt.org). R475Q has been identified in sequencing studies (PMID: 32997802), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R48W missense unknown AXL R48W lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). R48W has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R507W missense unknown AXL R507W lies within the cytoplasmic domain of the Axl protein (UniProt.org). R507W has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R527W missense unknown AXL R527W lies within the cytoplasmic domain of the Axl protein (UniProt.org). R527W has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R55Q missense unknown AXL R55Q lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). R55Q has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R610Q missense unknown AXL R610Q lies within the protein kinase domain of the Axl protein (UniProt.org). R610Q has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL R671Q missense unknown AXL R671Q lies within the protein kinase domain of the Axl protein (UniProt.org). R671Q has been identified in sequencing studies (PMID: 25855536), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Sep 2022).
AXL R71W missense unknown AXL R71W lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). R71W has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL S128F missense unknown AXL S128F lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). S128F has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL S265A missense unknown AXL S265A lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). S265A has been identified in sequencing studies (PMID: 31328403), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Jun 2022).
AXL S285L missense unknown AXL S285L lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). S285L has been identified in sequencing studies (PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL S341G missense unknown AXL S341G lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). S341G has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL S685F missense unknown AXL S685F lies within the protein kinase domain of the Axl protein (UniProt.org). S685F has been identified in the scientific literature (PMID: 25568918), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL S694F missense unknown AXL S694F lies within the protein kinase domain of the Axl protein (UniProt.org). S694F has not been characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL T343M missense unknown AXL T343M lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). T343M has been identified in the scientific literature (PMID: 33570712), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL V289M missense unknown AXL V289M lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). V289M has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL V421L missense unknown AXL V421L lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). V421L has been identified in sequencing studies (PMID: 32321774), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Jun 2022).
AXL V459M missense unknown AXL V459M lies within the transmembrane domain of the Axl protein (UniProt.org). V459M has been identified in sequencing studies (PMID: 26675719), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL V60F missense unknown AXL V60F lies within the Ig-like C2-type domain 1 of the Axl protein (UniProt.org). V60F has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Sep 2022).
AXL V618I missense unknown AXL V618I lies within the protein kinase domain of the Axl protein (UniProt.org). V618I has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL Y367C missense unknown AXL Y367C lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). Y367C has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
AXL Y371C missense unknown AXL Y371C lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). Y371C has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2022).
BRAF A598S missense unknown BRAF A598S lies within the protein kinase domain of the Braf protein (UniProt.org). A598S has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF A762E missense unknown BRAF A762E does not lie within any known functional domains of the Braf protein (UniProt.org). A762E has been demonstrated to confer secondary resistance to Egfr inhibitors in culture (PMID: 27478040), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022). Y
BRAF D587A missense unknown BRAF D587A lies within the protein kinase domain of the Braf protein (UniProt.org). D587A has been identified in sequencing studies (PMID: 14500346), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF D587E missense unknown BRAF D587E lies within the protein kinase domain of the Braf protein (UniProt.org). D587E has been identified in sequencing studies (PMID: 27034166), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF D587G missense unknown BRAF D587G lies within the protein kinase domain of the Braf protein (UniProt.org). D587G has been identified in the scientific literature (PMID: 24803665), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF D594Y missense unknown BRAF D594Y lies within the protein kinase domain of the Braf protein (UniProt.org). D594Y has been identified in sequencing studies (PMID: 29106415, PMID: 28486044, PMID: 32913992), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF E611D missense unknown BRAF E611D lies within the protein kinase domain of the Braf protein (UniProt.org). E611D has been identified in sequencing studies (PMID: 15935100), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF E695K missense unknown BRAF E695K lies within the protein kinase domain of the Braf protein (UniProt.org). E695K results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been fully biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF F595S missense unknown BRAF F595S lies within the protein kinase domain of the Braf protein (UniProt.org). F595S has been identified in sequencing studies (PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF G258V missense unknown BRAF G258V lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). G258V results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF G469K missense unknown BRAF G469K is a hotspot mutation within the protein kinase domain of the Braf protein (UniProt.org). G469K has been identified in the scientific literature (PMID: 29325942, PMID: 30348504, PMID: 31015314), but has not been biochemically characterized, and therefore, its effect on Braf protein function is unknown (PubMed, Oct 2022).
BRAF G469L missense unknown BRAF G469L lies within the protein kinase domain of the Braf protein (UniProt.org). G469L has been identified in the scientific literature (PMID: 24035431, PMID: 26301799, PMID: 26200454), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF G534D missense unknown BRAF G534D lies within the protein kinase domain of the Braf protein (UniProt.org). G534D has been demonstrated to confer resistance to Raf inhibitors in culture (PMID: 33953400), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2022). Y
BRAF G606A missense unknown BRAF G606A lies within the protein kinase domain of the Braf protein (UniProt.org). G606A has been identified in sequencing studies (PMID: 21825258), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF G606E missense unknown BRAF G606E lies within the protein kinase domain of the Braf protein (UniProt.org). G606E has been identified in sequencing studies (PMID: 29320312, PMID: 28936923, PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF G606V missense unknown BRAF G606V lies within the protein kinase domain of the Braf protein (UniProt.org). G606V has been identified in sequencing studies (PMID: 21825258), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF H269Y missense unknown BRAF H269Y lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). H269Y results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF H608R missense unknown BRAF H608R lies within the protein kinase domain of the Braf protein (UniProt.org). H608R has been identified in sequencing studies (PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF H725Y missense unknown BRAF H725Y does not lie within any known functional domains of the Braf protein (UniProt.org). H725Y results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been fully biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF I463T missense unknown BRAF I463T lies within the protein kinase domain of the Braf protein (UniProt.org). I463T is predicted to lead to Braf activation based on structural modeling (PMID: 28829677), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF I463W missense unknown BRAF I463W lies within the protein kinase domain of the Braf protein (UniProt.org). I463W has been demonstrated to confer resistance to some Braf inhibitors in culture (PMID: 31925410), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Oct 2022). Y
BRAF I582M missense unknown BRAF I582M lies within the protein kinase domain of the Braf protein (UniProt.org). I582M has been identified in sequencing studies (PMID: 30268455, PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF I592M missense unknown BRAF I592M lies within the protein kinase domain of the Braf protein (UniProt.org). I592M has been identified in sequencing studies (PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF I592V missense unknown BRAF I592V lies within the protein kinase domain of the Braf protein (UniProt.org). I592V has been identified in sequencing studies (PMID: 24710085, PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF K499N missense unknown BRAF K499N lies within the protein kinase domain of the Braf protein (UniProt.org). K449N results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been fully biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF K601_S602delinsNT indel unknown BRAF K601_S602delinsNT results in deletion of a lysine (K) and a serine (S) in the protein kinase domain of the Braf protein from amino acids 601 to 602, combined with the insertion of an asparagine (N) and a threonine (T) at the same site (UniProt.org). K601_S602delinsNT has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF K601del deletion unknown BRAF K601del results in the deletion of an amino acid in the protein kinase domain of the Braf protein at amino acid 601 (UniProt.org). K601del has been identified in sequencing studies (PMID: 19152441), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF K601I missense unknown BRAF K601I lies within the protein kinase domain of the Braf protein (UniProt.org). K601I has been identified in the scientific literature (PMID: 26682952, PMID: 29176861, PMID: 23555633), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF L245F missense unknown BRAF L245F lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). L245F results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF L485W missense unknown BRAF L485W lies within the protein kinase domain of the Braf protein (UniProt.org). L485W results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF L485Y missense unknown BRAF L485Y lies within the protein kinase domain of the Braf protein (UniProt.org). L485Y has been demonstrated to confer resistance to Raf inhibition in cell culture (PMID: 19276360), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022). Y
BRAF L584F missense unknown BRAF L584F lies within the protein kinase domain of the Braf protein (UniProt.org). L584F results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF L584P missense unknown BRAF L584P lies within the protein kinase domain of the Braf protein (UniProt.org). L584P has been identified in the scientific literature (PMID: 31569065), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Jun 2022).
BRAF L597K missense unknown BRAF L597K lies within the protein kinase domain of the Braf protein (UniProt.org). L597K has been identified in the scientific literature (PMID: 33560788), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2022).
BRAF L597P missense unknown BRAF L597P lies within the protein kinase domain of the Braf protein (UniProt.org). L597P has been identified in the scientific literature (PMID: 33777142), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF L613F missense unknown BRAF L613F lies within the protein kinase domain of the Braf protein (UniProt.org). L613F results in increased transformation ability as compared to wild-type Braf, in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF M53I missense unknown BRAF M53I does not lie within any known functional domains of the Braf protein (UniProt.org). M53I results in increased transformation ability compared to wild-type Braf in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF N20T missense unknown BRAF N20T does not lie within any known functional domains of the Braf protein (UniProt.org). N20T has been identified in sequencing studies (PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF N486_A489delinsK indel unknown BRAF N486_A489delinsK results in a deletion of four amino acids in the protein kinase domain of the Braf protein from amino acids 486 to 489, combined with the insertion of a lysine (K) at the same site (UniProt.org). N486_A489delinsK has been identified in sequencing studies (PMID: 29247016), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF N486D missense unknown BRAF N486D lies within the protein kinase domain of the Braf protein (UniProt.org). N486D results in increased transformation ability compared to wild-type Braf in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF P367L missense unknown BRAF P367L does not lie within any known functional domains of the Braf protein (UniProt.org). P367L has been identified in sequencing studies (PMID: 26317466), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF P367S missense unknown BRAF P367S does not lie within any known functional domains of the Braf protein (UniProt.org). P367S results in increased transformation ability compared to wild-type Braf in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF P453T missense unknown BRAF P453T does not lie within any known functional domains of the Braf protein (UniProt.org). P453T has been identified in sequencing studies (PMID: 27717198, PMID: 16404419), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF P731S missense unknown BRAF P731S does not lie within any known functional domains of the Braf protein (UniProt.org). P731S results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF P731T missense unknown BRAF P731T does not lie within any known functional domains of the Braf protein (UniProt.org). P731T has been identified in the scientific literature (PMID: 29320312), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF Q257H missense unknown BRAF Q257H lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). Q257H has been identified in sequencing studies (PMID: 28852190, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF Q262R missense unknown BRAF Q262R lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). Q262R has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF Q609E missense unknown BRAF Q609E lies within the protein kinase domain of the Braf protein (UniProt.org). Q609E results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF Q609L missense unknown BRAF Q609L lies within the protein kinase domain of the Braf protein (UniProt.org). Q609L has been identified in the scientific literature (PMID: 31837433, PMID: 34588906), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF R239Q missense unknown BRAF R239Q lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). R239Q has been identified in the scientific literature (PMID: 29903896), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF R444W missense unknown BRAF R444W does not lie within any known functional domains of the Braf protein (UniProt.org). R444W has been identified in sequencing studies (PMID: 15578519), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF R682W missense unknown BRAF R682W lies within the protein kinase domain of the Braf protein (UniProt.org). R682W has been demonstrated to confer resistance to Tarceva (erlotinib) in the context of EGFR exon 19 deletions in cultured cells (PMID: 27478040), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Oct 2022). Y
BRAF S363F missense unknown BRAF S363F does not lie within any known functional domains of the Braf protein (UniProt.org). S363F has been identified in the scientific literature (PMID: 29903896), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF S365L missense unknown BRAF S365L does not lie within any known functional domains of the Braf protein (UniProt.org). S365L has been demonstrated to occur as a secondary drug resistance mutation (PMID: 34178685), but has not been biochemically characterized and therefore, it's effect on Braf protein function is unknown (PubMed, Aug 2022). Y
BRAF S36A missense unknown BRAF S36A does not lie within any known functional domains of the Braf protein (UniProt.org). S36A has been identified in sequencing studies (PMID: 28423545), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Jul 2022).
BRAF S602T missense unknown BRAF S602T lies within the protein kinase domain of the Braf protein (UniProt.org). S602T has been identified in sequencing studies (PMID: 24433452, PMID: 31980996), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF S605F missense unknown BRAF S605F lies within the protein kinase domain of the Braf protein (UniProt.org). S605F has been identified in sequencing studies (PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF S605N missense unknown BRAF S605N lies within the protein kinase domain of the Braf protein (UniProt.org). S605N has been identified in sequencing studies (PMID: 29176861, PMID: 28628916, PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF T119S missense unknown BRAF T119S does not lie within any known functional domains of the Braf protein (UniProt.org). T119S has been shown to confer resistance to a novel AKT degrader in the context of BRAF V600E (PMID: 34301793), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2022).
BRAF T529I missense unknown BRAF T529I is a gatekeeper mutation that lies within the protein kinase domain of the Braf protein (PMID: 20538618). T529I has been demonstrated to confer resistance to Raf inhibitors in the context of BRAF V600E (PMID: 20538618), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2022). Y
BRAF T529M missense unknown BRAF T529M lies within the protein kinase domain of the Braf protein (UniProt.org). T529M has been demonstrated to confer resistance to Raf inhibitors (PMID: 20538618, PMID: 28783719, PMID: 31453322), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022). Y
BRAF T529N missense unknown BRAF T529N lies within the protein kinase domain of the Braf protein (UniProt.org). T529N has been demonstrated to confer resistance to Raf inhibitors (PMID: 20538618, PMID: 20807807, PMID: 20141835), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022). Y
BRAF T599_V600insS insertion unknown BRAF T599_V600insS results in the insertion of a serine (S) in the protein kinase domain of the Braf protein between amino acids 599 and 600 (UniProt.org). T599_V600insS has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF V226L missense unknown BRAF V226L lies within the RBD domain of the Braf protein (UniProt.org). V226L has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF V459L missense unknown BRAF V459L lies within the protein kinase domain of the Braf protein (UniProt.org). V459L results in impaired Braf kinase activity and leads to Ras-dependent activation of Erk in culture (PMID: 28783719), however, in two different cell lines, induces similar cell proliferation and cell viability as compared to wild-type Braf (PMID: 29533785), and therefore, its effect on Braf protein function is unknown.
BRAF V471I missense unknown BRAF V471I lies within the protein kinase domain of the Braf protein (UniProt.org). V471I has been identified in sequencing studies (PMID: 28188106, PMID: 23103869), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF V590G missense unknown BRAF V590G lies within the protein kinase domain of the Braf protein (UniProt.org). V590G has been identified in the scientific literature (PMID: 28650588), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF V600Q missense unknown BRAF V600Q (previously reported as V599Q) lies within the activation segment and the protein kinase domain of the Braf protein (PMID: 15035987). V600Q has been identified in the scientific literature (PMID: 28848703), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF W531C missense unknown BRAF W531C lies within the protein kinase domain of the Braf protein (UniProt.org). W531C results in the weak activation of MEK signaling and does not induce transformation in cell culture (PMID: 19206169), but in two different cell lines, W531C demonstrates increased cell proliferation and viability as compared to wild-type Braf (PMID: 29533785), and demonstrates increased Mek and Erk signaling in drosophila (PMID: 33855281), and therefore, its effect on Braf protein function is unknown.
BRAF W604C missense unknown BRAF W604C lies within the protein kinase domain of the Braf protein (UniProt.org). W604C has been identified in the scientific literature (PMID: 30926357, PMID: 26110571, PMID: 35050727), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Jun 2022).
BRAF W604del deletion unknown BRAF W604del results in the deletion of an amino acid in the protein kinase domain of the Braf protein at amino acid 604 (UniProt.org). W604del has been identified in sequencing studies (PMID: 15513360), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF W604G missense unknown BRAF W604G lies within the protein kinase domain of the Braf protein (UniProt.org). W604G has been identified in the scientific literature (PMID: 29769567, PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF W604R missense unknown BRAF W604R lies within the protein kinase domain of the Braf protein (UniProt.org). W604R has been identified in sequencing studies (PMID: 28188106, PMID: 21825258, PMID: 23833300), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF W619R missense unknown BRAF W619R lies within the protein kinase domain of the Braf protein (UniProt.org). W619R has been identified in sequencing studies (PMID: 16179870), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BRAF Y472C missense unknown BRAF Y472C lies within the protein kinase domain of the Braf protein (UniProt.org). Y472C results in impaired Braf kinase activity, but paradoxically increases Mek and Erk signaling through C-raf transactivation (PMID: 22649091), however in two different cell lines, Y472C induces similar cell proliferation and cell viability as compared to wild-type Braf (PMID: 29533785), and therefore, its effect on Braf protein function is unknown.
BRAF Y538H missense unknown BRAF Y538H lies within the protein kinase domain of the Braf protein (UniProt.org). Y538H has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, May 2022).
BTK A508T missense unknown BTK A508T lies within the protein kinase domain of the Btk protein (UniProt.org). A508T has been identified in sequencing studies (PMID: 26387629), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK A582T missense unknown BTK A582T lies within the protein kinase domain of the Btk protein (UniProt.org). A582T has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK A622P missense unknown BTK A622P lies within the protein kinase domain of the Btk protein (UniProt.org). A622P has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK C481A missense unknown BTK C481A lies within the protein kinase domain of the Btk protein (UniProt.org). C481A interferes with drug binding, leading to ibrutinib resistance (PMID: 24869597), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022). Y
BTK D539N missense unknown BTK D539N lies within the protein kinase domain of the Btk protein (UniProt.org). D539N has been identified in the scientific literature (PMID: 31217352), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK D57N missense unknown BTK D57N lies within the PH domain of the Btk protein (UniProt.org). D57N has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK E108K missense unknown BTK E108K lies within the PH domain of the Btk protein (UniProt.org). E108K has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK E445D missense unknown BTK E445D lies within the protein kinase domain of the Btk protein (UniProt.org). E445D is predicted to impact the catalytic function of the Btk protein based on structural modeling (PMID: 11527964), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK E567D missense unknown BTK E567D lies within the protein kinase domain of the Btk protein (UniProt.org). E567D has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK E589D missense unknown BTK E589D lies within the protein kinase domain of the Btk protein (UniProt.org). E589D is predicted to disrupt structural stability of Btk by structural modeling (PMID: 11527964), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK E589G missense unknown BTK E589G lies within the protein kinase domain of the Btk protein (UniProt.org). E589G is predicted to disrupt structural stability of Btk by structural modeling (PMID: 11527964, PMID: 32784026), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK E88K missense unknown BTK E88K lies within the PH domain of the Btk protein (UniProt.org). E88K has been identified in the scientific literature (PMID: 29735551), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK G259W missense unknown BTK G259W lies within the SH3 domain of the Btk protein (UniProt.org). G259W has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK G594E missense unknown BTK G594E lies within the protein kinase domain of the Btk protein (UniProt.org). G594E is predicted to affect the P-1 binding pocket based on structural modeling (PMID: 11527964), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK H364N missense unknown BTK H364N lies within the SH2 domain of the Btk protein (UniProt.org). H364N has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK H491D missense unknown BTK H491D lies within the protein kinase domain of the Btk protein (UniProt.org). H491D has been identified in the scientific literature (PMID: 25777788), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK H491Y missense unknown BTK H491Y lies within the protein kinase domain of the Btk protein (UniProt.org). H491Y has been identified in sequencing studies (PMID: 18772396), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK I167V missense unknown BTK I167V lies within the Btk-type zinc finger domain of the Btk protein (UniProt.org). I167V has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK I331M missense unknown BTK I331M lies within the SH2 domain of the Btk protein (UniProt.org). I331M has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK K176Q missense unknown BTK K176Q does not lie within any known functional domains of the Btk protein (UniProt.org). K176Q has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK K218N missense unknown BTK K218N lies within the SH3 domain of the Btk protein (UniProt.org). K218N has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK L233P missense unknown BTK L233P lies within the SH3 domain of the Btk protein (UniProt.org). L233P has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK L294M missense unknown BTK L294M lies within the SH2 domain of the Btk protein (UniProt.org). L294M has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK L647F missense unknown BTK L647F lies within the protein kinase domain of the Btk protein (UniProt.org). L647F has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK M509I missense unknown BTK M509I lies within the protein kinase domain of the Btk protein (UniProt.org). M509I is predicted by structural modeling to affect Btk protein stability (PMID: 11527964), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK P190K missense unknown BTK P190K does not lie within any known functional domains of the Btk protein (UniProt.org). P190K has been identified in sequencing studies (PMID: 16140923), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK P204_Y263del deletion unknown BTK P204_Y263del results in a deletion of 59 amino acids of the Btk protein from amino acids 204 to 263 (UniProt.org). P204_Y263del has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Oct 2022).
BTK P22H missense unknown BTK P22H lies within the PH domain of the Btk protein (UniProt.org). P22H has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Jul 2022).
BTK P22L missense unknown BTK P22L lies within the PH domain of the Btk protein (UniProt.org). P22L has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Jul 2022).
BTK P376S missense unknown BTK P376S lies within the SH2 domain of the Btk protein (UniProt.org). P376S has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK Q166K missense unknown BTK Q166K lies within the Btk-type zinc finger domain of the Btk protein (UniProt.org). Q166K has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK R171S missense unknown BTK R171S lies within the Btk-type zinc finger domain of the Btk protein (UniProt.org). R171S has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK R255Q missense unknown BTK R255Q lies within the SH3 domain of the Btk protein (UniProt.org). R255Q has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Sep 2022).
BTK R332H missense unknown BTK R332H lies within the SH2 domain of the Btk protein (UniProt.org). R332H has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK R46C missense unknown BTK R46C lies within the PH domain of the Btk protein (UniProt.org). R46C has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK R490C missense unknown BTK R490C lies within the protein kinase domain of the Btk protein (UniProt.org). R490C has been identified in sequencing studies (PMID: 19734198), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK R492H missense unknown BTK R492H lies within the protein kinase domain of the Btk protein (UniProt.org). R492H has been identified in sequencing studies (PMID: 24951259), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK R525G missense unknown BTK R525G lies within the protein kinase domain of the Btk protein (UniProt.org). R525G has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK R544M missense unknown BTK R544M lies within the protein kinase domain of the Btk protein (UniProt.org). R544M has been identified in the scientific literature (PMID: 30240888), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, May 2022).
BTK R544W missense unknown BTK R544W lies within the protein kinase domain of the Btk protein (UniProt.org). R544W has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK S115F missense unknown BTK S115F lies within the PH domain of the Btk protein (PMID: 10196129). S115F is predicted to disrupt protein folding by structural modeling (PMID: 10196129), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK S180F missense unknown BTK S180F does not lie within any known functional domains of the Btk protein (UniProt.org). S180F has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK S247N missense unknown BTK S247N lies within the SH3 domain of the Btk protein (UniProt.org). S247N has been identified in sequencing studies (PMID: 20668451), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK S289N missense unknown BTK S289N lies within the SH2 domain of the Btk protein (UniProt.org). S289N has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK S51N missense unknown BTK S51N lies within the PH domain of the Btk protein (UniProt.org). S51N has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK S553R missense unknown BTK S553R lies within the protein kinase domain of the Btk protein (UniProt.org). S553R has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK S55A missense unknown BTK S55A lies within the PH domain of the Btk protein (UniProt.org). S55A has been identified in sequencing studies (PMID: 22722201), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK S592F missense unknown BTK S592F lies within the protein kinase domain of the Btk protein (UniProt.org). S592F has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK T117P missense unknown BTK T117P lies within the PH domain of the Btk protein (UniProt.org). T117P has been identified in the scientific literature (PMID: 15466623, PMID: 28064239), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Jul 2022).
BTK T316A missense unknown BTK T316A lies within the SH2 domain of the Btk protein (UniProt.org). T316A has been demonstrated to confer resistance to resistance to Imbruvica (ibrutinib) in culture (PMID: 27626698), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022). Y
BTK V336L missense unknown BTK V336L lies within the SH2 domain of the Btk protein (UniProt.org). V336L has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK V416A missense unknown BTK V416A lies within the protein kinase domain of the Btk protein (UniProt.org). V416A has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK W124* nonsense loss of function - predicted BTK W124* results in a premature truncation of the Btk protein at amino acid 124 of 659 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W124* is predicted to lead to a loss of Btk function.
BTK W251R missense unknown BTK W251R lies within the SH3 domain of the Btk protein (UniProt.org). W251R has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK W588* nonsense unknown BTK W588* results in a premature truncation of the Btk protein at amino acid 588 of 659 (UniProt.org). W588* has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK W588C missense unknown BTK W588C lies within the protein kinase domain of the Btk protein (UniProt.org). W588C has been identified in sequencing studies (PMID: 18056464), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK Y334C missense unknown BTK Y334C lies within the SH2 domain of the Btk protein (UniProt.org). Y334C has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK Y40C missense unknown BTK Y40C lies within the PH domain of the Btk protein (PMID: 10196129). Y40C has been identified in the scientific literature (PMID: 9260159), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK Y591* nonsense unknown BTK Y591* results in premature truncation of the Btk protein at amino acid 591 of 659 (UniProt.org). Y591* has not been characterized in the scientific literature and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
BTK Y627C missense unknown BTK Y627C lies within the protein kinase domain of the Btk protein (UniProt.org). Y627C has not been characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
CBL A186V missense unknown CBL A186V lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). A186V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL A678D missense unknown CBL A678D lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). A678D has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL A757T missense unknown CBL A757T lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). A757T has been identified in sequencing studies (PMID: 30337359, PMID: 29866652, PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL A848T missense unknown CBL A848T lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). A848T has been identified in sequencing studies (PMID: 26580448, PMID: 20126411), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL A848V missense unknown CBL A848V lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). A848V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, May 2022).
CBL A850V missense unknown CBL A850V lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). A850V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL A877V missense unknown CBL A877V lies within the UBA domain of the Cbl protein (UniProt.org). A877V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL A881T missense unknown CBL A881T lies within the UBA domain of the Cbl protein (UniProt.org). A881T has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL C381G missense unknown CBL C381G lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C381G is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL C384W missense unknown CBL C384W lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C384W has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL C396Y missense unknown CBL C396Y lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C396Y is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL C401F missense unknown CBL C401F lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C401F is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL C401R missense unknown CBL C401R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C401R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL C401Y missense unknown CBL C401Y lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C401Y is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL C404R missense unknown CBL C404R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C404R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL C404Y missense unknown CBL C404Y lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C404Y is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL C416R missense unknown CBL C416R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C416R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL C416S missense unknown CBL C416S lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C416S has been identified in the scientific literature (PMID: 22071139, PMID: 31004019, PMID: 29872864), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2022).
CBL C416Y missense unknown CBL C416Y lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C416Y is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL C419R missense unknown CBL C419R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C419R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL D390V missense unknown CBL D390V lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). D390V has been identified in the scientific literature (PMID: 24493670), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Jul 2022).
CBL D459V missense unknown CBL D459V lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). D459V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL D460del deletion unknown CBL D460del results in the deletion of an amino acid of the Cbl protein at amino acid 460 (UniProt.org). D460del has been identified in sequencing studies (PMID: 28098136, PMID: 25186949, PMID: 24817963), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Apr 2022).
CBL D501H missense unknown CBL D501H lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). D501H has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL E143D missense unknown CBL E143D lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). E143D has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL E276K missense unknown CBL E276K lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). E276K has been identified in sequencing studies (PMID: 29338072, PMID: 27389057), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL E366K missense unknown CBL E366K lies within the linker region of the Cbl protein (UniProt.org). E366K has been identified in sequencing studies (PMID: 27029036, PMID: 20678218), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL E369_Y371del deletion unknown CBL E369_Y371del results in the deletion of three amino acids in the linker region of the Cbl protein from amino acids 369 to 371 (UniProt.org). E369_Y371del has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL E815D missense unknown CBL E815D lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). E815D has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL E886* nonsense unknown CBL E886* results in a premature truncation of the Cbl protein at amino acid 886 of 906 (UniProt.org). E886* has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL E894* nonsense unknown CBL E894* results in a premature truncation of the Cbl protein at amino acid 894 of 906 (UniProt.org). E894* has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL E894G missense unknown CBL E894G lies within the UBA domain of the Cbl protein (UniProt.org). E894G has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL F418I missense unknown CBL F418I lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). F418I has been identified in sequencing studies (PMID: 24618614), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL F418V missense unknown CBL F418V lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). F418V has been identified in sequencing studies (PMID: 19620960), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL F622C missense unknown CBL F622C lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). F622C has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL G397V missense unknown CBL G397V lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). G397V has been identified in sequencing studies (PMID: 27997717, PMID: 23010802), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL G413R missense unknown CBL G413R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C413R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL G415S missense unknown CBL G415S lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). G415S is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL G415V missense unknown CBL G415V lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C415V is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL G816S missense unknown CBL G816S lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). G816S has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL G868E missense unknown CBL G868E lies within the UBA domain of the Cbl protein (UniProt.org). G868E has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL G868V missense unknown CBL G868V lies within the UBA domain of the Cbl protein (UniProt.org). G868V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL H398P missense unknown CBL H398P lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). H398P is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL H398R missense unknown CBL H398R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). H398R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL H661P missense unknown CBL H661P lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). H661P has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL H903L missense unknown CBL H903L lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). H903L has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL I98T missense unknown CBL I98T lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). I98T is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL K322T missense unknown CBL K322T lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). K322T has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL K477M missense unknown CBL K477M lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). K477M has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL L281H missense unknown CBL L281H lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). L281H has been identified in sequencing studies (PMID: 22495314), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL L380P missense unknown CBL L380P lies within the linker region of the Cbl protein (UniProt.org). L380P has been identified in the scientific literature (PMID: 19387008), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL L405P missense unknown CBL L405P lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). L405P is predicted to disrupt Cbl stability by structural modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL L405R missense unknown CBL L405R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). L405R has been identified in sequencing studies (PMID: 31107544), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL L467V missense unknown CBL L467V lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). L467V has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL L493F missense unknown CBL L493F lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). L493F is predicted to result in decreased Cbl stability by protein modeling (PMID: 33550024), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2022).
CBL L620F missense unknown CBL L620F lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). L620F has been identified in the scientific literature (PMID: 20126411, PMID: 28533818), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL L878F missense unknown CBL L878F lies within the UBA domain of the Cbl protein (UniProt.org). L878F has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL L892F missense unknown CBL L892F lies within the UBA domain of the Cbl protein (UniProt.org). L892F has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL M400R missense unknown CBL M400R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). M400R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL M469I missense unknown CBL M469I lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). M469I has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL M487V missense unknown CBL M487V lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). M487V has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL N832I missense unknown CBL N832I lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). N832I has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL N890fs frameshift unknown CBL N890fs results in a change in the amino acid sequence of the Cbl protein beginning at aa 890 of 906, likely resulting in premature truncation of the functional protein (UniProt.org). N890fs has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL P201S missense unknown CBL P201S lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). P201S has been identified in sequencing studies (PMID: 25303977, PMID: 24265154), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL P417H missense unknown CBL P417H lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). P417H has been identified in sequencing studies (PMID: 27011036, PMID: 23010802), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL P417L missense unknown CBL P417L lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). P417L has been identified in sequencing studies (PMID: 27997717, PMID: 26214590, PMID: 24030381), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL P433Q missense unknown CBL P433Q lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). P433Q has been identified in sequencing studies (PMID: 30171174), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL P484S missense unknown CBL P484S lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). P484S has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL P532S missense unknown CBL P532S lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). P532S has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL P546L missense unknown CBL P546L lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). P546L has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL P703L missense unknown CBL P703L lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). P703L has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL Q367R missense unknown CBL Q367R lies within the linker region of the Cbl protein (UniProt.org). Q367R has been identified in sequencing studies (PMID: 26956871, PMID: 30836094, PMID: 24896186), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL Q867* nonsense unknown CBL Q867* results in a premature truncation of the Cbl protein at amino acid 867 of 906 (UniProt.org). Q867* has been identified in sequencing studies (PMID: 28027327), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL Q875* nonsense unknown CBL Q875* results in a premature truncation of the Cbl protein at amino acid 875 of 906 (UniProt.org). Q875* has been identified in sequencing studies (PMID: 26214590), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL Q882H missense unknown CBL Q882H lies within the UBA domain of the Cbl protein (UniProt.org). Q882H has been identified in sequencing studies (PMID: 30352278), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL R149Q missense unknown CBL R149Q lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). R149Q has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL R420G missense unknown CBL R420G lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). R420G is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL R420L missense unknown CBL R420L lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). R420L is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL R420P missense unknown CBL R420P lies within the RING-finger domain of the Cbl protein (PMID: 20501843). R420P leads to destabilization of Cbl-E2 binding in computational models (PMID: 26676746), but has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2022).
CBL R437I missense unknown CBL R437I lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). R437I has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL R499Q missense unknown CBL R499Q lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). R499Q has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL R559Q missense unknown CBL R559Q does not lie within any known functional domains of the Cbl protein (UniProt.org). R559Q has been identified in sequencing studies (PMID: 28270683), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2022).
CBL R709Q missense unknown CBL R709Q lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). R709Q has been identified in sequencing studies (PMID: 27449473), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL R788Q missense unknown CBL R788Q lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). R788Q has been identified in sequencing studies (PMID: 29057546, PMID: 26580448), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2022).
CBL R822G missense unknown CBL R822G lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). R822G has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL R822T missense unknown CBL R822T lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). R822T has been identified in sequencing studies (PMID: 24190505), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL R830K missense unknown CBL R830K lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). R830K has been identified in sequencing studies (PMID: 20126411), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL R893L missense unknown CBL R893L lies within the UBA domain of the Cbl protein (UniProt.org). R893L has been identified in sequencing studies (PMID: 28157713), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL R96S missense unknown CBL R96S lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). R96S has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL S217C missense unknown CBL S217C lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). S217C has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL S217Y missense unknown CBL S217Y lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). S217Y has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL S253F missense unknown CBL S253F lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). S253F has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL S403F missense unknown CBL S403F lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). S403F has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL S675F missense unknown CBL S675F lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). S675F has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL T426A missense unknown CBL T426A lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). T426A has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL V478L missense unknown CBL V478L does not lie within any known functional domains of the Cbl protein (UniProt.org). V478L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2022).
CBL V813I missense unknown CBL V813I lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). V813I has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL W408L missense unknown CBL W408L lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). W408L is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL Y368_K382del deletion unknown CBL Y368_K382del results in the deletion of 15 amino acids within the linker region of the Cbl protein from amino acids 368 to 382 (UniProt.org). Y368_K382del has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2022).
CBL Y455_D456del deletion unknown CBL Y455_D456del results in the deletion of two amino acids of the Cbl protein from amino acids 455 to 456 (UniProt.org). Y455_D456del has been identified in sequencing studies (PMID: 25017477), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2022).
CDKN2A A102V missense unknown CDKN2A A102V lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). A102V has been identified in the scientific literature (PMID: 9053859, PMID: 31026031, PMID: 29615459), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jul 2022).
CDKN2A A127fs frameshift unknown CDKN2A A127fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 127 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). A127fs has been identified in sequencing studies (PMID: 9808520), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A A20E missense unknown CDKN2A A20E lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A20E has been identified in sequencing studies (PMID: 8589032), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A A21P missense unknown CDKN2A A21P lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A21P has been identified in the scientific literature (PMID: 27415609, PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A A36G missense unknown CDKN2A A36G lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A36G has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A A57T missense unknown CDKN2A A57T lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). A57T has been identified in sequencing studies (PMID: 27077911, PMID: 25530832, PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A A73D missense unknown CDKN2A A73D does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A73D has been identified in sequencing studies (PMID: 16354195), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A A76T missense unknown CDKN2A A76T does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A76T has been identified in sequencing studies (PMID: 31004019, PMID: 26164066, PMID: 34915860), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A D108G missense unknown CDKN2A D108G does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D108G has been identified in the scientific literature (PMID: 23770606, PMID: 26873401, PMID: 33441293), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Sep 2022).
CDKN2A D108V missense unknown CDKN2A D108V does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D108V has been identified in sequencing studies (PMID: 29301828, PMID: 26919633), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jul 2022).
CDKN2A D125fs frameshift unknown CDKN2A D125fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 125 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). D125fs has been identified in sequencing studies (PMID: 27882345, PMID: 23525077, PMID: 8637233), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A D14G missense unknown CDKN2A D14G lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). D14G has been identified in sequencing studies (PMID: 26873401), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A D14N missense unknown CDKN2A D14N lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). D14N has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A D74F missense unknown CDKN2A D74F does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74F has been identified in sequencing studies (PMID: 32699558), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2022).
CDKN2A D74H missense unknown CDKN2A D74H does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74H retains the ability to inhibit proliferation and cell cycle progression (PMID: 35001868), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2022).
CDKN2A D74V missense unknown CDKN2A D74V does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74V has been identified in sequencing studies (PMID: 29625247, PMID: 16354195), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A E119K missense unknown CDKN2A E119K lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). E119K has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jul 2022).
CDKN2A E120D missense unknown CDKN2A E120D lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). E120D has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A E88Gfs*59 frameshift loss of function - predicted CDKN2A E88Gfs*59 indicates a shift in the reading frame starting at amino acid 88 and terminating 59 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). E88Gfs*59 has not been characterized however, due to the effects of other truncation mutations downstream of E88 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
CDKN2A G111D missense unknown CDKN2A G111D lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). G111D has been identified in sequencing studies (PMID: 22991414, PMID: 8747595), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A G45S missense unknown CDKN2A G45S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). G45S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A H83D missense unknown CDKN2A H83D lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83D has been identified in the scientific literature (PMID: 30430578, PMID: 12614625, PMID: 32561076), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2022).
CDKN2A H83Q missense unknown CDKN2A H83Q lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83Q has been identified in sequencing studies (PMID: 28506684, PMID: 12117769), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2022).
CDKN2A H83R missense unknown CDKN2A H83R lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83R has been identified in sequencing studies (PMID: 25456132, PMID: 22817889, PMID: 32561076), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2022).
CDKN2A L130R missense unknown CDKN2A L130R lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). L130R has been identified in sequencing studies (PMID: 25303977, PMID: 22156295), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2022).
CDKN2A L31V missense unknown CDKN2A L31V lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). L31V has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A M52I missense unknown CDKN2A M52I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). M52I has been identified in sequencing studies (PMID: 19593635), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A M52L missense unknown CDKN2A M52L lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). M52L has been identified in sequencing studies (PMID: 29970484, PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A M52R missense unknown CDKN2A M52R lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). M52R has been identified in sequencing studies (PMID: 25846456), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jul 2022).
CDKN2A N42H missense unknown CDKN2A N42H does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). N42H has been identified in sequencing studies (PMID: 29615459, PMID: 24436120), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A P114H missense unknown CDKN2A P114H lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). P114H has been identified in the scientific literature (PMID: 15195137, PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A P114T missense unknown CDKN2A P114T lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). P114T has been identified in sequencing studies (PMID: 29026114), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A P48R missense unknown CDKN2A P48R lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). P48R has been identified in sequencing studies (PMID: 26336083, PMID: 25855536), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A P70T missense unknown CDKN2A P70T lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). P70T has been identified in sequencing studies (PMID: 29936259), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A P75S missense unknown CDKN2A P75S does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). P75S has been identified in the scientific literature (PMID: 30709382), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2022).
CDKN2A P81S missense unknown CDKN2A P81S lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). P81S has been identified in sequencing studies (PMID: 29489023, PMID: 27844328, PMID: 23851445), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A Q50H missense unknown CDKN2A Q50H lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). Q50H has been identified in sequencing studies (PMID: 30325992; PMID: 26076459), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A Q50R missense unknown CDKN2A Q50R lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). Q50R has been identified in the scientific literature (PMID: 29464027, PMID: 11477665), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A R112P missense unknown CDKN2A R112P lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R112P has been identified in sequencing studies (PMID: 29279705, PMID: 8895759), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2022).
CDKN2A R128fs frameshift unknown CDKN2A R128fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 128 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). R128fs has been identified in the scientific literature (PMID: 12853981, PMID: 21085193), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A R131C missense unknown CDKN2A R131C lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R131C has been identified in sequencing studies (PMID: 30038052, PMID: 12870051), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A R80P missense unknown CDKN2A R80P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R80P has been identified in sequencing studies (PMID: 26919633), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A R80Q missense unknown CDKN2A R80Q lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R80Q has been identified in sequencing studies (PMID: 27311873, PMID: 16354195), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A S43I missense unknown CDKN2A S43I does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). S43I has been identified in sequencing studies (PMID: 14556920), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A S56N missense unknown CDKN2A S56N lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). S56N has been identified in the scientific literature (PMID: 9414654, PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A V51I missense unknown CDKN2A V51I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). V51I rescues G1-cell cycle arrest similar to wild-type Cdkn2a in cultured cells (PMID: 11113205), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown.
CDKN2A V51Sfs*2 frameshift loss of function - predicted CDKN2A V51Sfs*2 indicates a shift in the reading frame starting at amino acid 51 and terminating 2 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). V51Sfs*2 has not been characterized however, due to the effects of other truncation mutations downstream of V51 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
CDKN2A V82E missense unknown CDKN2A V82E lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). V82E has been identified in the scientific literature (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2022).
CDKN2A V82M missense unknown CDKN2A V82M lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). V82M has been identified in sequencing studies (PMID: 29348365, PMID: 27311873), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A Y129* nonsense unknown CDKN2A Y129* results in a premature truncation of the Cdkn2a protein at amino acid 129 of 156 (UniProt.org). Y129* has been identified in sequencing studies (PMID: 30291346, PMID: 23565280, PMID: 25855536), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2022).
CDKN2A Y44C missense unknown CDKN2A Y44C lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). Y44C has not been characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2022).
CSF1R A123T missense unknown CSF1R A123T lies within Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). A123T has been identified in sequencing studies (PMID: 24997986, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R A226V missense unknown CSF1R A226V lies within Ig-like C2-type domain 3 of the Csfr1 protein (UniProt.org). A226V has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R A245S missense unknown CSF1R A245S lies within Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). A245S has been identified in sequencing studies (PMID: 23649896), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R A273S missense unknown CSF1R A273S lies within Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). A273S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R A527T missense unknown CSF1R A527T lies within the transmembrane domain of the Csf1r protein (UniProt.org). A527T has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R A767V missense unknown CSF1R A767V lies within the protein kinase domain of the Csf1r protein (UniProt.org). A767V has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R A781G missense unknown CSF1R A781G lies within the protein kinase domain of the Csf1r protein (UniProt.org). A781G has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R A960T missense unknown CSF1R A960T lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). A960T has been identified in sequencing studies (PMID: 30115035, PMID: 26010451, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Jun 2022).
CSF1R A96T missense unknown CSF1R A96T lies within Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). A96T has been identified in sequencing studies (PMID: 29872864, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Jun 2022).
CSF1R C224S missense unknown CSF1R C224S lies within Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). C224S has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R D802V missense gain of function CSF1R D802V lies within the protein kinase domain of the Csf1r protein (UniProt.org). D802V confers a gain of function as demonstrated by increased stability of the Csf1r protein and the ability to transform cells in cultrue (PMID: 10340379, PMID: 18971950).
CSF1R D837H missense unknown CSF1R D837H lies within the protein kinase domain of the Csf1r protein (UniProt.org). D837H has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R D837N missense unknown CSF1R D837N lies within the protein kinase domain of the Csf1r protein (UniProt.org). D837N has been identified in sequencing studies (PMID: 25151357), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R E475Q missense unknown CSF1R E475Q lies within Ig-like C2-type domain 5 of the Csf1r protein (UniProt.org). E475Q has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R E49K missense unknown CSF1R E49K lies within Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). E49K has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R E557D missense unknown CSF1R E557D lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). E557D has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R E920D missense unknown CSF1R E920D lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). E920D has been identified in sequencing studies (PMID: 32586046), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Jun 2022).
CSF1R F737L missense unknown CSF1R F737L lies within the protein kinase domain of the Csf1r protein (UniProt.org). F737L has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R G340V missense unknown CSF1R G340V lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). G340V has been identified in sequencing studies (PMID: 22722201), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R G413S missense unknown CSF1R G413S lies within Ig-like C2-type domain 5 of the Csf1r protein (UniProt.org). G413S has been identified in sequencing studies (PMID: 29681454, PMID: 25957691, PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R G690S missense unknown CSF1R G690S lies within the protein kinase domain of the Csf1r protein (UniProt.org). G690S has been identified in sequencing studies (PMID: 27499925), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R H345P missense unknown CSF1R H345P lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). H345P has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R H506Q missense unknown CSF1R H506Q lies within the extracellular domain of the Csf1r protein (UniProt.org). H506Q has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R H506Y missense unknown CSF1R H506Y lies within the extracellular domain of the Csf1r protein (UniProt.org). H506Y has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R K543M missense unknown CSF1R K543M lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). K543M has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R L301F missense unknown CSF1R L301F lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). L301F has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R L303V missense unknown CSF1R L303V lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). L303V has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R L309P missense unknown CSF1R L309P lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). L309P has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R N255I missense unknown CSF1R N255I lies within Ig-like C2-type domain 3 of the Csfr1 protein (UniProt.org). N255I has been identified in the scientific literature (PMID: 29531323), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Jun 2022).
CSF1R N302H missense unknown CSF1R N302H lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). N302H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R P104T missense unknown CSF1R P104T lies within Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). P104T has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Jun 2022).
CSF1R P28S missense unknown CSF1R P28S lies within Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). P28S has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R P510L missense unknown CSF1R P510L lies within the extracellular domain of the Csf1r protein (UniProt.org). P510L has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R P566L missense unknown CSF1R P566L lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). P566L has been identified in sequencing studies (PMID: 27998968), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R P56H missense unknown CSF1R P56H lies within Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). P56H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R P56R missense unknown CSF1R P56R lies within Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). P56R has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R P855L missense unknown CSF1R P855L lies within the protein kinase domain of the Csf1r protein (UniProt.org). P855L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R P901S missense unknown CSF1R P901S lies within the protein kinase domain of the Csf1r protein (UniProt.org). P901S has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R P966L missense unknown CSF1R P966L lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). P966L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R Q448H missense unknown CSF1R Q448H lies within Ig-like C2-type domain 5 of the Csf1r protein (UniProt.org). Q448H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R Q877K missense unknown CSF1R Q877K lies within the protein kinase domain of the Csf1r protein (UniProt.org). Q877K has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R R144C missense unknown CSF1R R144C lies within Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). R144C has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R R144H missense unknown CSF1R R144H lies within Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). R144H has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Jun 2022).
CSF1R R256C missense unknown CSF1R R256C lies within Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). R256C has been identified in sequencing studies (PMID: 28481359, PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R R294Q missense unknown CSF1R R294Q lies within the extracellular domain of the Csf1r protein (UniProt.org). R294Q has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R R370C missense unknown CSF1R R370C lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). R370C has been identified in sequencing studies (PMID: 27586204), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Jun 2022).
CSF1R R370H missense unknown CSF1R R370H lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). R370H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R R41Q missense unknown CSF1R R41Q lies within Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). R41Q has identified in the scientific literature (PMID: 35688262), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Jul 2022).
CSF1R R549C missense unknown CSF1R R549C lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). R549C has been identified in sequencing studies (PMID: 25583476), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Jun 2022).
CSF1R R710H missense unknown CSF1R R710H lies within the protein kinase domain of the Csf1r protein (UniProt.org). R710H has been identified in sequencing studies (PMID: 22610119, PMID: 22185227), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R R753L missense unknown CSF1R R753L lies within the protein kinase domain of the Csf1r protein (UniProt.org). R753L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R S250F missense unknown CSF1R S250F lies within Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). S250F has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R T37M missense unknown CSF1R T37M lies within Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). T37M has been identified in sequencing studies (PMID: 27499925), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R T663I missense unknown CSF1R T663I lies within the protein kinase domain of the Csf1r protein (UniProt.org). T663I has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R V138D missense unknown CSF1R V138D lies within Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). V138D has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R V279M missense unknown CSF1R V279M lies within Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). V279M has been identified in sequencing studies (PMID: 23103869), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R V27F missense unknown CSF1R V27F lies within Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). V27F has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R V315L missense unknown CSF1R V315L lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). V315L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R V325M missense unknown CSF1R V325M lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). V325M has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R V38M missense unknown CSF1R V38M lies within Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). V38M has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R V613M missense unknown CSF1R V613M lies within the protein kinase domain of the Csf1r protein (UniProt.org). V613M has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R Y360C missense unknown CSF1R Y360C lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). Y360C has been identified in sequencing studies (PMID: 22810696, PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R Y540S missense unknown CSF1R Y540S lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y540S has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R Y561_I564del deletion unknown CSF1R Y561_I564del results in the deletion of four amino acids in the regulatory juxtamembrane domain of the Csf1r protein from amino acids 561 to 564 (UniProt.org). Y561_I564del has been identified in the scientific literature (PMID: 31768065, PMID: 34978715), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R Y61H missense unknown CSF1R Y61H lies within Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). Y61H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R Y969* nonsense unknown CSF1R Y969* results in a premature truncation of the Csf1r protein at amino acid 969 of 972 (UniProt.org). Y969* has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R Y969C missense unknown CSF1R Y969C lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y969C has been identified in the scientific literature (PMID: 2406720), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF1R Y969H missense unknown CSF1R Y969H lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y969H has been identified in the scientific literature (PMID: 2406720), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, May 2022).
CSF3R A119T missense unknown CSF3R A119T lies within the extracellular domain of the Csf3r protein (UniProt.org). A119T has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R A124V missense unknown CSF3R A124V lies within the extracellular domain of the Csf3r protein (UniProt.org). A124V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R A208V missense unknown CSF3R A208V lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). A208V has been identified in sequencing studies (PMID: 25957691), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R A383V missense unknown CSF3R A383V lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). A383V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R A470T missense unknown CSF3R A470T lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). A470T has been identified in sequencing studies (PMID: 28825054), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R A520S missense unknown CSF3R A520S lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). A520S has been identified in sequencing studies (PMID: 24798001), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R A593T missense unknown CSF3R A593T lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). A593T has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R A602S missense unknown CSF3R A602S lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). A602S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R A778V missense unknown CSF3R A778V lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). A778V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R A832V missense unknown CSF3R A832V lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). A832V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R C52G missense unknown CSF3R C52G lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). C52G has been identified in sequencing studies (PMID: 27742771), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R D236G missense unknown CSF3R D236G lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). D236G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R D320N missense unknown CSF3R D320N lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). D320N has been identified in the scientific literature (PMID: 23774674, PMID: 30891028, PMID: 34573308), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R D364Y missense unknown CSF3R D364Y lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). D364Y has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R D40N missense unknown CSF3R D40N lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). D40N has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R D510H missense unknown CSF3R D510H lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). D510H has been identified in sequencing studies (PMID: 27742771), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R D702G missense unknown CSF3R D702G lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). D702G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R D810* nonsense unknown CSF3R D810* results in a premature truncation of the Csf3r protein at amino acid 810 of 836 (UniProt.org). D810* has been identified in the scientific literature (PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R E149D missense unknown CSF3R E149D lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). E149D has been identified in the scientific literature (PMID: 30891028), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R E149Q missense unknown CSF3R E149Q lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). E149Q has been identified in sequencing studies (Blood (2018) 132 (Supplement 1): 4389), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R E254K missense unknown CSF3R E254K lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). E254K has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R E363D missense unknown CSF3R E363D lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). E363D has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R E363V missense unknown CSF3R E363V lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). E363V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R E405K missense unknown CSF3R E405K lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). E405K has been identified in the scientific literature (PMID: 30891028), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jun 2022).
CSF3R E501K missense unknown CSF3R E501K lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E501K has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R E553K missense unknown CSF3R E553K lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). E553K has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R E700Q missense unknown CSF3R E700Q lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). E700Q has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R E808K missense unknown CSF3R E808K lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). E808K (also referred to as E785K) results in decreased colony formation compared to wild-type Csf3r in cultured cells, however, does not alter activation of Erk2, Mapk, Jnk, or Stat5, or cell differentiation (PMID: 15644419), and is not transforming in cell culture (PMID: 26475333), and therefore, its effect on Csf3r protein function is unknown.
CSF3R F156S missense unknown CSF3R F156S lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). F156S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R F813* nonsense unknown CSF3R F813* results in a premature truncation of the Csf3r protein at amino acid 813 of 836 (UniProt.org). F813* has been identified in the sequencing studies (PMID: 34975010), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R G147_P148insR insertion unknown CSF3R G147_P148insR results in the insertion of an arginine (R) in the fibronectin type-III domain 1 of the Csf3r protein between amino acids 147 and 148 (UniProt.org). G147_P148insR has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R G21R missense unknown CSF3R G21R lies within the signal peptide region of the Csf3r protein (UniProt.org). G21R has been identified in sequencing studies (PMID: 22722829), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R G415R missense unknown CSF3R G415R lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). G415R has been identified in the scientific literature (PMID: 30295334), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R G487W missense unknown CSF3R G487W lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). G487W has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R G513E missense unknown CSF3R G513E lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). G513E has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R G539C missense unknown CSF3R G539C lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). G539C has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R G555R missense unknown CSF3R G555R lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). G555R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R G671C missense unknown CSF3R G671C lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G671C has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R G687S missense unknown CSF3R G687S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G687S has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R G72R missense unknown CSF3R G72R lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). G72R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R G731R missense unknown CSF3R G731R lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G731R has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R G757D missense unknown CSF3R G757D lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G757D has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R G81R missense unknown CSF3R G81R lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). G81R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R H588Y missense unknown CSF3R H588Y lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). H588Y has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R I48N missense unknown CSF3R I48N lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). I48N has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R I494V missense unknown CSF3R I494V lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). I494V has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R I598M missense unknown CSF3R I598M lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). I598M has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R K180N missense unknown CSF3R K180N lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). K180N has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R K785E missense unknown CSF3R K785E lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). K785E has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R L219I missense unknown CSF3R L219I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). L219I has been identified in sequencing studies (PMID: 34465320), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R L23M missense unknown CSF3R L23M lies within the signal peptide region of the Csf3r protein (UniProt.org). L23M has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R L285F missense unknown CSF3R L285F lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). L285F has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R L55Q missense unknown CSF3R L55Q lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). L55Q has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R L595V missense unknown CSF3R L595V lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). L595V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R L62Q missense unknown CSF3R L62Q lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). L62Q has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R L685P missense unknown CSF3R L685P lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L685P has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R L723V missense unknown CSF3R L723V lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L723V has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R L768R missense unknown CSF3R L768R lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L768R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R M133I missense unknown CSF3R M133I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). M133I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R M199I missense unknown CSF3R M199I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). M199I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R M231V missense unknown CSF3R M231V lies within the extracellular domain of the Csf3r protein (UniProt.org). M231V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R M601I missense unknown CSF3R M601I lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). M601I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R N656S missense unknown CSF3R N656S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). N656S has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R N713K missense unknown CSF3R N713K lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). N713K has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R N789S missense unknown CSF3R N789S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). N789S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R P20L missense unknown CSF3R P20L lies within the signal peptide region of the Csf3r protein (UniProt.org). P20L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R P221L missense unknown CSF3R P221L lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). P221L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R P34L missense unknown CSF3R P34L lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). P34L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R P34S missense unknown CSF3R P34S lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). P34S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, May 2022).
CSF3R P360L missense unknown CSF3R P360L lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). P360L has been identified in sequencing studies (PMID: 24662767), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R P467L missense unknown CSF3R P467L lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). P467L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R P527S missense unknown CSF3R P527S lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). P527S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R P675S missense unknown CSF3R P675S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). P675S has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R P782Hfs*8 frameshift unknown CSF3R P782Hfs*8 indicates a shift in the reading frame starting at amino acid 782 and terminating 8 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). P782Hfs*8 has been identified in the scientific literature (PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R P782L missense unknown CSF3R P782L lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). P782L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R Q168H missense unknown CSF3R Q168H lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). Q168H has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R Q197H missense unknown CSF3R Q197H lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). Q197H has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R Q739* nonsense unknown CSF3R Q739* results in a premature truncation of the Csf3r protein at amino acid 739 of 836 (UniProt.org). Q739* has been identified in the scientific literature (PMID: 25865944, PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R Q749* nonsense unknown CSF3R Q749* results in a premature truncation of the Csf3r protein at amino acid 749 of 836 (UniProt.org). Q749* has been identified in sequencing studies (PMID: 30891028, PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Sep 2022).
CSF3R R118P missense unknown CSF3R R118P lies within the extracellular domain of the Csf3r protein (UniProt.org). R118P has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R R190H missense unknown CSF3R R190H lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). R190H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R R233W missense unknown CSF3R R233W lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R233W has been identified in sequencing studies (PMID: 29316426, PMID: 26857262), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Apr 2022).
CSF3R R269C missense unknown CSF3R R269C lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R269C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R R274C missense unknown CSF3R R274C lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R274C has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R R343W missense unknown CSF3R R343W lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). R343W has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R R367W missense unknown CSF3R R367W lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). R367W has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R R418H missense unknown CSF3R R418H lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). R418H has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R R428K missense unknown CSF3R R428K lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). R428K has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R R440Q missense unknown CSF3R R440Q lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). R440Q has been identified in sequencing studies (PMID: 23774674), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R R484T missense unknown CSF3R R484T lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). R484T has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R R583L missense unknown CSF3R R583L lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). R583L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R R769C missense unknown CSF3R R769C lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). R769C has been identified in sequencing studies (PMID: 25798586), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R S374Y missense unknown CSF3R S374Y lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). S374Y has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R S413L missense unknown CSF3R S413L lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). S413L has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R S473G missense unknown CSF3R S473G lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). S473G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R S557G missense unknown CSF3R S557G lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S557G has been identified in the scientific literature (PMID: 34573308), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R S573F missense unknown CSF3R S573F lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S573F has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R S581F missense unknown CSF3R S581F lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S581F has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R S581P missense unknown CSF3R S581P lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S581P has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R S582F missense unknown CSF3R S582F lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S582F has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R S594G missense unknown CSF3R S594G lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S594G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R S624L missense unknown CSF3R S624L lies within the extracellular domain of the Csf3r protein (UniProt.org). S624L has been identified in sequencing studies (PMID: 23303603), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R S651N missense unknown CSF3R S651N lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). S651N has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R S661N missense unknown CSF3R S661N lies within the box 1 motif of the Csf3r protein (UniProt.org). S661N has been identified in the scientific literature (PMID: 34573308), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R S669G missense unknown CSF3R S669G lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). S669G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R S786Lfs*2 frameshift unknown CSF3R S786Lfs*2 indicates a shift in the reading frame starting at amino acid 786 and terminating 2 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). S786Lfs*2 has been identified in the scientific literature (PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R S79F missense unknown CSF3R S79F lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). S79F has been identified in sequencing studies (PMID: 26758680), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R T137I missense unknown CSF3R T137I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). T137I has been identified in sequencing studies (PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R T154I missense unknown CSF3R T154I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). T154I has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2022).
CSF3R T234I missense unknown CSF3R T234I lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). T234I has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R T476I missense unknown CSF3R T476I lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). T476I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R T618I missense gain of function CSF3R T618I lies within the extracellular domain proximal to the transmembrane domain of the Csf3r protein (PMID: 23656643). T618I confers a gain of function to the Csf3r protein as demonstrated by increased proliferation (PMID: 23656643), increased colony formation (PMID: 31784538), increased downstream Jak-Stat signaling in transformed cells in culture (PMID: 23656643), and led to the development of leukemia in a mouse model (PMID: 31784538).
CSF3R T690M missense unknown CSF3R T690M lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). T690M has been identified in sequencing studies (PMID: 27070704), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R T799S missense unknown CSF3R T799S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). T799S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R V178M missense unknown CSF3R V178M lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). V178M has been identified in sequencing studies (PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R V812F missense unknown CSF3R V812F lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). V812F has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R W105R missense unknown CSF3R W105R lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). W105R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R W202S missense unknown CSF3R W202S lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). W202S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R W356S missense unknown CSF3R W356S lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). W356S has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R W547R missense unknown CSF3R W547R lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). W547R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R Y121S missense unknown CSF3R Y121S lies within the extracellular domain of the Csf3r protein (UniProt.org). Y121S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R Y196H missense unknown CSF3R Y196H lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). Y196H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CSF3R Y752* nonsense unknown CSF3R Y752* results in a premature truncation of the Csf3r protein at amino acid 752 of 836 (UniProt.org). Y752* has been identified in the scientific literature (PMID: 23656643), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Jul 2022).
CTNNB1 A20V missense unknown CTNNB1 A20V lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). A20V has been identified in the scientific literature (PMID: 10213482, PMID: 33535453, PMID: 34725446), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 A21_A149del deletion unknown CTNNB1 A21_A149del results in the deletion of 129 amino acids of the Ctnnb1 protein from amino acids 21 to 149 (UniProt.org). A21_A149del has been identified in sequencing studies (PMID: 24735922, PMID: 27939373), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 A21_A152del deletion unknown CTNNB1 A21_A152del results in the deletion of 132 amino acids of the Ctnnb1 protein from amino acids 21 to 152 (UniProt.org). A21_A152del has been identified in sequencing studies (PMID: 23887712), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 A43V missense unknown CTNNB1 A43V does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A43V is not associated with nuclear accumulation of beta-catenin in patient samples (PMID: 10213482), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown.
CTNNB1 A5_Q143del deletion unknown CTNNB1 A5_Q143del results in the deletion of 139 amino acids of the Ctnnb1 protein from amino acids 5 to 143, which includes complete loss of exon 3 (UniProt.org, PMID: 27177928). A5_Q143del has been identified in sequencing studies (PMID: 10698519), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 A702V missense unknown CTNNB1 A702V does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A702V has been identified in sequencing studies (PMID: 24336570), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 D11V missense unknown CTNNB1 D11V lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). D11V has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jun 2022).
CTNNB1 D162E missense unknown CTNNB1 D162E lies within ARM repeat 1 of the Ctnnb1 protein (UniProt.org). D162E has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 D712N missense unknown CTNNB1 D712N does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). D712N has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 E15K missense unknown CTNNB1 E15K lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). E15K has been identified in the scientific literature (PMID: 20717765, PMID: 31841566), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 E396D missense unknown CTNNB1 E396D does not lie within any functional domains of the Ctnnb1 protein (UniProt.org). E396D has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 E462K missense unknown CTNNB1 E462K lies within ARM repeat 8 of the Ctnnb1 protein (UniProt.org). E462K has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 G367R missense unknown CTNNB1 G367R lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). G367R has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 G38A missense unknown CTNNB1 G38A lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38A is associated with lack of Ctnnb1 expression in patient samples (PMID: 11520139), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 G38C missense unknown CTNNB1 G38C lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38C has been identified in the scientific literature (PMID: 27601661), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2022).
CTNNB1 G38D missense unknown CTNNB1 G38D lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38D is not associated with Ctnnb1 nuclear accumulation in patient samples (PMID: 10213482, PMID: 11559529), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown.
CTNNB1 G38V