Gene Detail

Gene Symbol ABL1
Synonyms ABL | bcr/abl | c-ABL | c-ABL1 | CHDSKM | JTK7 | p150 | v-abl
Gene Description ABL1, tyrosine-protein kinase ABL1, is a non-receptor tyrosine kinase, which plays a role in regulation of cell growth through ERK5, Rac/JNK, and Stat1/3 pathways (PMID: 10373409). Fusion proteins of BCR-ABL1 resulting in constitutive kinase activity have been reported in various cancers (PMID: 18851712, PMID: 30125955) and a number of Abl1 mutations in the context of BCR-ABL1 have been demonstrated to confer drug resistance (PMID: 24456693).
Entrez Id 25
Chromosome 9
Map Location 9q34.12
Canonical Transcript NM_005157

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Mar 2018).
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), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2018).
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, Nov 2018).
wild-type none no effect Wild-type ABL1 indicates that no mutation has been detected within the ABL1 gene.
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-ABL (PMID: 21562040, PMID: 28467002), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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, Jun 2018). Y
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, Nov 2018).
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, Nov 2018).
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-ABL (PMID: 19798095, PMID: 26773037), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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, Nov 2018).
H396P missense unknown ABL1 H396P lies within the protein kinase domain of the Abl1 protein (UniProt.org). H396P has not been characterized, but is predicted to lead to activation of Abl1 as indicated by the conformation of the crystal structure of the catalytic domain (PMID: 16424036).
V468F missense gain of function ABL1 V468F lies within the protein kinase domain of the Abl1 protein (UniProt.org). V468F has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763, PMID: 27890928) and results in increased kinase activity and transformation in cultured cells (PMID: 27890928). Y
G321L missense gain of function - predicted ABL1 G321L (corresponding to G340L in isoform IB) lies within the protein kinase domain of the Abl1 protein (UniProt.org). G321L does not result in increased phosphorylation of CRKL by Abl1, but leads to increased cytoplasmic Abl1 retention and is associated with increased cell survival in culture, and is predicted to lead to a gain of Abl1 function (PMID: 26758680).
E308* nonsense loss of function - predicted ABL1 E308* results in a premature truncation of the Abl1 protein at amino acid 308 of 1149 (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), E308* is predicted to result in a loss of Abl1 protein function.
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-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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, Nov 2018).
E450G missense unknown ABL1 E450G lies within the protein kinase domain of the Abl1 protein (UniProt.org). E450G has been identified in sequencing studies (PMID: 20512393), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2018).
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-ABL (PMID: 16046538, PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, May 2018). Y
mutant unknown unknown ABL1 mutant indicates and unspecified mutation in the ABL1 gene.
over exp none no effect ABL1 over exp indicates an over expression of the Abl1 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
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-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
K605del deletion unknown ABL1 K605del (also reported as K624del in isoform IB) results in the deletion of an amino acid in the nuclear localization signal motif 1 of the Abl1 protein at amino acid 605 (UniProt.org). K605del has not been characterized in the scientific literature and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2018).
R332W missense gain of function ABL1 R332W (corresponding to R351W in isoform IB) lies within the protein kinase domain of the Abl1 protein (UniProt.org). R332W results in increased Abl1 kinase activity, as demonstrated by modest increase in CRKL phosphorylation, and increased cytoplasmic retention of Abl1 in cell culture (PMID: 26758680).
A337V missense gain of function ABL1 A337V lies within the protein kinase domain of the Abl1 protein (UniProt.org). A337V has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 25849130, PMID: 27890928) and results in increased kinase activity and transformation in cultured cells (PMID: 27890928). Y
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-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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, Jun 2018). Y
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-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2018).
T315N missense unknown ABL1 T315N lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315N has been demonstrated to occur as a secondary drug resistance mutation (PMID: 16046538), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Sep 2018). Y
P465S missense gain of function ABL1 P465S lies within the protein kinase domain of the Abl1 protein (UniProt.org). P465S has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 25849130, PMID: 27890928) and results in increased kinase activity and transformation in cultured cells (PMID: 27890928). Y
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-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
Y253H missense unknown ABL1 Y253H lies within the protein kinase domain of the Abl1 protein (UniProt.org). Y253H is a secondary resistance mutation in the context of BCR-ABL (PMID: 29375916) with conflicting functional data, as Y253H has been reported to not confer a growth advantage over wild-type Abl1 (PMID: 16482207) and has been reported to proliferate more rapidly than wild-type in competition experiments (PMID: 16880519). Y
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, Jun 2018). Y
P918S missense unknown ABL1 P918S lies within the DNA-binding region 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, Nov 2018).
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), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
G250E missense unknown ABL1 G250E lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250E has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
T315I missense gain of function ABL1 T315I is a gatekeeper mutation that lies within the hinge region of the protein kinase domain of the Abl1 protein (PMID: 18794843). T315I has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL and results in increased kinase activity and transformation in cultured cells (PMID: 11423618, PMID: 18794843, PMID: 27890928). Y
V299L missense unknown ABL1 V299L does not lie within any known functional domains of the Abl1 protein (UniProt.org). ABL1 V299L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL (PMID: 18242697, PMID: 23086624), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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, Mar 2018).
P309fs frameshift loss of function - predicted ABL1 P309fs results in a change in the amino acid sequence of the Abl1 protein beginning at aa 309 of 1130, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of the protein kinase domain (UniProt.org), P309fs is predicted to lead to a loss of Abl1 protein function.
V422I missense unknown ABL1 V422I lies within the protein kinase domain of the Abl1 protein (UniProt.org). V422I has not been characterized in the scientific literature and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2018).
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-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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, Nov 2018).
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, Nov 2018).
V289F missense unknown ABL1 V289F lies within the protein kinase domain of the Abl1 protein (UniProt.org). V289F has been identified in the scientific literature (PMID: 23355941), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jul 2018).
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-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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, Nov 2018).
Y253F missense gain of function ABL1 Y253F lies within the protein kinase domain of the Abl1 protein (UniProt.org). Y253F has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL and results in increased kinase activity and enhanced cell proliferation in culture (PMID: 16880519, PMID: 24487968). Y
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, Nov 2018).
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, Nov 2018).
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, Nov 2018).
amp none no effect ABL1 amplification indicates an increased number of copies of the ABL1 gene. However, the mechanism causing the increase is unspecified.
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-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
E255K missense gain of function ABL1 E255K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E255K has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL and results in both increased kinase activity and phosphorylation of STAT5 (PMID: 15194504). Y
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-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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, Nov 2018).
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-ABL (PMID: 21562040, PMID: 27813432), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
C475W missense unknown ABL1 C475W lies within the protein kinase domain of the Abl1 protein (UniProt.org). C457W 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, Nov 2018).
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-ABL (PMID: 21562040, PMID: 16754879), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
F317C missense unknown ABL1 F317C lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317C has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 24382642, PMID: 15459011), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
E281K missense unknown ABL1 E281K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E281K has been associated with drug resistance in the context of BCR-ABL (PMID: 21193419), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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, Jun 2018). Y
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-ABL (PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
R362fs frameshift loss of function - predicted ABL1 R362fs results in a change in the amino acid sequence of the Abl1 protein beginning at aa 362 of 1130, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of the protein kinase domain (UniProt.org), R362fs is predicted to lead to a loss of Abl1 protein function.
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, Nov 2018).
E1085K missense unknown ABL1 E1085K lies within the F-actin-binding region of the Abl1 protein (UniProt.org). E1085K has not been characterized in the scientific literature and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2018).
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-ABL (PMID: 19201023, PMID: 28657534), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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, Nov 2018).
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, Jun 2018). Y
D276G missense gain of function - predicted ABL1 D276G lies within the protein kinase domain of the Abl1 protein (UniProt.org). D276G has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL and results in increased kinase activity (PMID: 15510211) and therefore, is predicted to confer a gain of function to the Abl1 protein. Y
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), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
K596* nonsense loss of function - predicted ABL1 K596* results in a premature truncation of the Abl1 protein at amino acid 596 of 1130 (UniProt.org). Due to the loss of the DNA-binding and actin-binding regions (UniProt.org), R596* is predicted to lead to a loss of Abl1 protein function.
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, Nov 2018).
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), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Sep 2018).
R577* nonsense loss of function - predicted ABL1 R577* results in a premature truncation of the Abl1 protein at amino acid 577 of 1130 (UniProt.org). Due to the loss of the DNA-binding and actin-binding regions (UniProt.org), R577* is predicted to lead to a loss of Abl1 protein function.
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, Nov 2018).
E255V missense unknown ABL1 E255V lies within the protein kinase domain of the Abl1 protein (UniProt.org). E255V has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL (PMID: 21562040, PMID: 15710326), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
S972L missense unknown ABL1 S972L lies in the F-actin-binding region of the Abl1 protein (UniProt.org). S972L has not been characterized in the scientific literature and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018).
act mut unknown gain of function ABL1 act mut indicates that this variant results in a gain of function in the ABL1 protein. However, the specific amino acid change has not been identified.
M351T missense unknown ABL1 M351T lies within the protein kinase domain of the Abl1 protein (UniProt.org). M351T results in a loss of inhibitor binding and has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL (PMID: 16046538, PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
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), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2018).
Q346L missense unknown ABL1 Q346L lies within the protein kinase domain of the Abl1 protein (UniProt.org). Q346L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
I242M missense unknown ABL1 I242M lies within the protein kinase domain of the Abl1 protein (UniProt.org). I242M has not been fully biochemically characterized, but does not result in expression of the Abl1 protein or phosphorylation of the downstream signaling molecule, Crkl, in vitro (PMID: 26758680) and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2018).
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, Jun 2018).
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-ABL (PMID: 16046538, PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jun 2018). Y
R239C missense unknown ABL1 R239C does not lie within any known functional domains of the Abl1 protein (UniProt.org). R239C has not been characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2018).
Molecular Profile Protein Effect Treatment Approaches
ABL1 G250R ABL1 G251D
ABL1 G250R unknown
ABL1 M237V unknown
ABL1 K262N unknown
ABL1 wild-type no effect
ABL1 V379I unknown
ABL1 P223S unknown
ABL1 Y456C unknown
ABL1 P310L unknown
ABL1 F359C unknown
ABL1 G250W unknown
ABL1 H396P unknown
ABL1 V468F gain of function
ABL1 G321L gain of function - predicted
ABL1 E308* loss of function - predicted
ABL1 F359I unknown
ABL1 E279W unknown
ABL1 E450G unknown
ABL1 F359V unknown
ABL1 mutant unknown
ABL1 over exp no effect
ABL1 L248V unknown
ABL1 K605del unknown
ABL1 R332W gain of function
ABL1 R332W ABL1 T315I
ABL1 A337V gain of function
ABL1 L384M unknown
ABL1 K294E unknown
ABL1 S417Y unknown
ABL1 E282D unknown
ABL1 T315N unknown
ABL1 P465S gain of function
ABL1 M388L unknown
ABL1 Y253H unknown
ABL1 F317V unknown
ABL1 P918S unknown
ABL1 T315A unknown
ABL1 G250E unknown
ABL1 F311I unknown
ABL1 T315I gain of function
ABL1 V299L unknown
ABL1 G251D unknown
ABL1 P309fs loss of function - predicted
ABL1 V422I unknown
ABL1 H396R unknown
ABL1 L387M unknown
ABL1 G250H unknown
ABL1 I432M unknown
ABL1 V289F unknown
ABL1 F311L unknown
ABL1 E279V unknown
ABL1 Y253F gain of function
ABL1 M237R unknown
ABL1 M437I unknown
ABL1 E275D unknown
ABL1 amp no effect
ABL1 M244V unknown
ABL1 E255K gain of function
ABL1 E355G unknown
ABL1 R362T unknown
ABL1 T315L unknown
ABL1 C475W unknown
ABL1 E279K unknown
ABL1 F317C unknown
ABL1 E281K unknown
ABL1 I502L unknown
ABL1 E355A unknown
ABL1 C330G unknown
ABL1 E1085K unknown
ABL1 E459K unknown
ABL1 E507G unknown
ABL1 F317I unknown
ABL1 D276G gain of function - predicted
ABL1 F317L unknown
ABL1 K596* loss of function - predicted
ABL1 R386M unknown
ABL1 A287V unknown
ABL1 R577* loss of function - predicted
ABL1 H295_P296insH unknown
ABL1 E255V unknown
ABL1 S972L unknown
ABL1 act mut gain of function
ABL1 M351T unknown
ABL1 Q346L unknown
ABL1 I242M unknown
ABL1 P980L unknown
ABL1 Q252H unknown
ABL1 R239C unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ABL1 G250R ABL1 G251D oral cavity cancer no benefit Nilotinib Clinical Study Actionable In a clinical study, Tasigna (nilotinib) treatment resulted in no benefit in a patient with oral cavity cancer harboring ABL1 G250R and G251D (PMID: 28514312). 28514312
ABL1 G321L lung adenocarcinoma sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) inhibited growth of a lung adenocarcinoma cell line harboring ABL1 G321L (also reported as G340L) in culture (PMID: 26758680). 26758680
ABL1 G321L lung adenocarcinoma sensitive Dasatinib Preclinical Actionable In a preclinical study, treatment with Sprycel (dasatinib) in decreased CRKL phosphorylation and reduced viability of lung adenocarcinoma cells harboring ABL1 G321L (also reported as G340L) in culture (PMID: 26758680). 26758680
ABL1 R332W lung adenocarcinoma sensitive Imatinib Preclinical - Cell line xenograft Actionable In a preclinical study, Gleevec (imatinib) inhibited growth of a lung adenocarcinoma cell line harboring ABL1 R332W (also reported as R351W) in culture, and inhibited tumor growth in xenograft models (PMID: 26758680). 26758680
ABL1 R332W lung adenocarcinoma sensitive Dasatinib Preclinical Actionable In a preclinical study, treatment with Sprycel (dasatinib) in decreased CRKL phosphorylation and reduced viability of lung adenocarcinoma cells harboring ABL1 R332W (also reported as R351W) in culture (PMID: 26758680). 26758680
ABL1 R332W ABL1 T315I lung adenocarcinoma resistant Dasatinib Preclinical Actionable In a preclinical study, lung adenocarcinoma cells harboring ABL1 R332W (also reported as R351W) and expressing ABL1 T315I demonstrated resistance to Sprycel (dasatinib) in culture (PMID: 26758680). 26758680
ABL1 R332W ABL1 T315I lung adenocarcinoma resistant Imatinib Preclinical - Cell line xenograft Actionable In a preclinical study, lung adenocarcinoma cells harboring ABL1 R332W (also reported as R351W) and expressing ABL1 T315I demonstrated resistance to Gleevec (imatinib) in culture and in xenograft models (PMID: 26758680). 26758680