Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol KIT
Synonyms C-Kit | CD117 | MASTC | PBT | SCFR
Gene Description KIT, KIT proto-oncogene, receptor tyrosine kinase, is a transmembrane receptor tyrosine kinase (PMID: 32214210) that binds the stem cell factor (SCF) ligand to activate PI3K, JAK/STAT, and MAPK pathways to promote cell survival and proliferation (PMID: 23181448, PMID: 29704617). Activating Kit mutations are driver mutations in a variety of cancers, particularly in gastrointestinal stromal tumors (PMID: 23127174, PMID: 29704617, PMID: 32091431), acute myeloid leukemia (PMID: 32008291), melanomas (PMID: 30707374, PMID: 32608199), and seminomas (PMID: 29704617), and Kit mutations have been associated with resistance to therapy (PMID: 32291709).

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
A402S missense unknown KIT A402S lies within the Ig-like C2-type domain 4 of the Kit protein (UniProt.org). A402S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
A502_Y503dup duplication gain of function KIT A502_Y503dup (also referred to as Y503_F504insAY) indicates the insertion of 2 duplicate amino acids, alanine (A)-502 through tyrosine (Y)-503, in the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). A502_Y503dup results in constitutive phosphorylation of Kit and is transforming in cell culture (PMID: 15790786, PMID: 19865100).
A794E missense unknown KIT A794E lies within the protein kinase domain of the Kit protein (UniProt.org). A794E has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
A829P missense gain of function KIT A829P lies within the protein kinase domain of the Kit protein (UniProt.org). A829P results in constitutive phosphorylation of Kit, activation of Akt and Erk signaling, and confers acquired resistance to imatinib in culture (PMID: 23582185). Y
act mut unknown gain of function KIT act mut indicates that this variant results in a gain of function in the Kit protein. However, the specific amino acid change has not been identified.
amp none no effect KIT amp indicates an increased number of copies of the KIT gene. However, the mechanism causing the increase is unspecified.
C443S missense unknown KIT C443S lies within the Ig-like C2-type domain 5 of the Kit protein (UniProt.org). C443S has been identified in the scientific literature (PMID: 25003536), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
C443Y missense gain of function - predicted KIT C443Y lies within the Ig-like C2-type domain 5 of the Kit protein (UniProt.org). C443Y results in constitutive ligand-independent activation of Kit in cell culture in one study (PMID: 19865100) and therefore, is predicted to lead to a gain of Kit protein function.
C809G missense unknown KIT C809G lies within the protein kinase domain of the Kit protein (UniProt.org). C809G has been associated with Kit inhibitor resistance (PMID: 16954519), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2020). Y
D419del deletion gain of function KIT D419del results in the deletion of one amino acid in the Ig-like C2-type domain 5 of the Kit protein at amino acid 419 (UniProt.org). D419del results in ligand independent phosphorylation of Kit in cell culture (PMID: 16143141, PMID: 15618474).
D419G missense no effect - predicted KIT D419G lies within the Ig-like C2-type domain 5 of the Kit protein (UniProt.org). D419G does not result in Kit phosphorylation and is not transforming in cultured cells (PMID: 31182436), and therefore, is predicted to have no effect on Kit protein function.
D52N missense unknown KIT D52N lies within the Ig-like C2-type domain 1 of the Kit protein (UniProt.org). D52N has been identified in the scientific literature (PMID: 15167915, PMID: 26968814), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
D572A missense gain of function - predicted KIT D572A lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). D572A results in ligand-independent phosphorylation of Kit in cell culture in one study (PMID: 19865100) and therefore, is predicted to lead to a gain of Kit protein function.
D572G missense gain of function KIT D572G does not lie within any known functional domains of the Kit protein (UniProt.org). D572G confers a gain of function to the Kit protein as indicated by increased JAK/STAT and NF-kappaB signaling in an in vitro assay (PMID: 29464843).
D572N missense unknown KIT D572N lies within the cytoplasmic domain of the Kit protein (UniProt.org). D572N has been identified in sequencing studies (PMID: 21478825), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
D572Y missense unknown KIT D572Y lies within the cytoplasmic domain of the Kit protein (UniProt.org). D572Y has been identified in sequencing studies (PMID: 10485475), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
D579del deletion gain of function KIT D579del results in a deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 579 (PMID: 9797363). D579del confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit, transformation of cultured cells and tumor formation in mice (PMID: 9797363).
D60N missense unknown KIT D60N lies within the Ig-like C2-type domain 1 of the Kit protein (UniProt.org). The functional effect of D60N is conflicting, as it results in activation of Jak-Stat signaling and increased proliferation, but also reduced ligand binding to Kit and decreased Akt and Erk signaling in culture (PMID: 24211109).
D677N missense unknown KIT D677N lies within the protein kinase domain of the Kit protein (UniProt.org). D677N is associated with drug resistance when in the context of an activating KIT mutation (PMID: 31270078), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown. Y
D816A missense unknown KIT D816A lies within the protein kinase domain of the Kit protein (UniProt.org). D816A has been identified in the scientific literature (PMID: 22847983) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
D816E missense unknown KIT D816E lies within the protein kinase domain of the Kit protein (UniProt.org). D816E has been identified in the scientific literature (PMID: 29100343, PMID: 29093181) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
D816F missense gain of function KIT D816F lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). D816F results in constitutive phosphorylation of Kit and activation of Stat3, Mapk, and Akt signaling in cultured cells (PMID: 9990072, PMID: 16397263), and also confers resistance to imatinib in culture (PMID: 16397263). Y
D816G missense gain of function KIT D816G lies within the protein kinase domain of the Kit protein (UniProt.org). D816G results in constitutive phosphorylation of Kit, is transforming in culture, and confers resistance to crizotinib (PMID: 27068398).
D816H missense gain of function KIT D816H lies within the tyrosine kinase domain region 2 (exon 17) of the Kit protein (PMID: 19164557). D816H results in increased kinase activity, constitutive Kit phosphorylation, activation of Stat3 signaling, and transformation of cultured cells (PMID: 10362788, PMID: 11494148). Y
D816I missense gain of function KIT D816I lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). D816I results in constitutive phosphorylation of Kit, increased phosphorylation of Gsk3beta, activation of Stat pathways, and is transforming in cell culture (PMID: 19865100, PMID: 20484085).
D816N missense gain of function KIT D816N lies within the protein kinase domain of the Kit protein (UniProt.org). D816N results in constitutive phosphorylation of Kit, is transforming in cell culture, and promotes tumor formation in animal models (PMID: 11378569).
D816V missense gain of function KIT D816V lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 19865100). D816V results in constitutive phosphorylation of Kit, activation of Stat5 signaling (PMID: 19865100, PMID: 18390729), induces mastocytosis and tumor formation in mice (PMID: 21148330) and confers resistance to Kit inhibitors (PMID: 22301675, PMID: 19164557). Y
D816X missense unknown KIT D816X indicates any Kit missense mutation that results in the replacement of the aspartic acid (D) at amino acid 816 by a different amino acid. Y
D816Y missense gain of function KIT D816Y lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 21640708). D816Y results in constitutive phosphorylation of Kit, activation of Akt and Mapk pathways in cultured cells (PMID: 21640708, PMID: 16397263), and confers resistance to imatinib in culture (PMID: 16397263). Y
D820A missense unknown KIT D820A lies within the protein kinase domain of the Kit protein (UniProt.org). D820A has been demonstrated to occur as a secondary drug resistance mutation in Kit (PMID: 16954519, PMID: 31363162), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2020). Y
D820E missense unknown KIT D820E lies within the protein kinase domain of the Kit protein (UniProt.org). D820E has been associated with secondary drug resistance (PMID: 19861442), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020). Y
D820G missense unknown KIT D820G lies within the protein kinase domain of the Kit protein (UniProt.org). D820G has been identified as a secondary mutation associated with imatinib resistance (PMID: 18488160), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020). Y
D820H missense unknown KIT D820H lies within the protein kinase domain of the Kit protein (UniProt.org). D820H has been identified in the scientific literature (PMID: 22937135, PMID: 16741525), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
D820N missense unknown KIT D820N lies within the protein kinase domain of the Kit protein (UniProt.org). D820N has been identified as a secondary mutation associated with imatinib-resistance (PMID: 18628470), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020). Y
D820V missense unknown KIT D820V lies within the protein kinase domain of the Kit protein (UniProt.org). D820V has been identified as a secondary mutation associated with imatinib resistant (PMID: 18294292), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020). Y
D820Y missense gain of function KIT D820Y lies within the protein kinase domain of the Kit protein (UniProt.org). D820Yresuts in constitutive phosphorylation of Kit and is transforming in cell culture (PMID: 19035443, PMID: 11984533), and has also been identified as a secondary mutation associated with imatinib-resistance (PMID: 18488160). Y
E228* nonsense loss of function - predicted KIT E228* results in a premature truncation of the Kit protein at amino acid 228 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), E228* is predicted to lead to a loss of Kit protein function.
E249* nonsense loss of function - predicted KIT E249* results in a premature truncation of the Kit protein at amino acid 249 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), E249* is predicted to lead to a loss of Kit protein function.
E306* nonsense loss of function - predicted KIT E306* results in a premature truncation of the Kit protein at amino acid 306 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), E306* is predicted to lead to a loss of Kit protein function.
E490* nonsense loss of function - predicted KIT E490* results in a premature truncation of the Kit protein at amino acid 490 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), E490* is predicted to lead to a loss of Kit protein function.
E490K missense unknown KIT E490K lies within the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). E490K has been identified in the scientific literature (PMID: 22357254) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
E53K missense unknown KIT E53K lies within the Ig-like C2-type domain 1 of the Kit protein (UniProt.org). E53K has been identified in sequencing studies (PMID: 17710669), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
E554K missense unknown KIT E554K lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). E554K has been identified in sequencing studies (PMID: 21642685), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
E554_D572delinsA indel gain of function - predicted KIT E554_D572delinsA results in the deletion of 19 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 554 to 572, combined with the insertion of an alanine (A) at the same site (PMID: 16226710). E554_D572delinsA has not been characterized, however similar Kit exon 11 deletions are activating, thus E554_D572delinsA is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
E554_K558del deletion gain of function - predicted KIT E554_K558del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 554 to 558 (PMID: 16226710). E554_K558del has not been characterized, however similar Kit exon 11 deletions are activating, thus E554_K558del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
E561fs frameshift loss of function - predicted KIT E561fs results in a change in the amino acid sequence of the Kit protein beginning at aa 561 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E561fs is predicted to lead to a loss of Kit protein function.
E561K missense unknown KIT E561K lies within the cytoplasmic domain of the Kit protein (UniProt.org). E561K has been identified in sequencing studies (PMID: 16770100, PMID: 29719410), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
E562K missense unknown KIT E562K lies within the cytoplasmic domain of the Kit protein (UniProt.org). E562K has been identified in sequencing studies (PMID: 20861712), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
E695* nonsense loss of function - predicted KIT E695* results in a premature truncation of the Kit protein at amino acid 695 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), E695* is predicted to lead to a loss of Kit protein function.
E839K missense loss of function KIT E839K lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). E839K results in impaired Kit protein maturation, a loss of Kit phosphorylation, and dominant inhibition of activating Kit mutations in cultured cells (PMID: 9990072, PMID: 15790786).
exon 11 del deletion gain of function KIT exon 11 (amino acids 550-591) deletions are in-frame deletions within the juxtamembrane domain of the Kit protein (PMID: 26349547). KIT exon 11 deletions are associated with constitutive activation of Kit (PMID: 9438854, PMID: 15365079).
exon11 unknown unknown KIT exon 11 (amino acids 550-591) indicates an unspecified mutation within the juxtamembrane domain has occurred in exon 11 of the KIT gene.
exon13 unknown unknown KIT exon 13 (amino acids 627-663) indicates an unspecified mutation has occurred in exon 13 of the KIT gene.
exon14 unknown unknown KIT exon 14 (amino acids 664-713) indicates an unspecified mutation has occurred in exon 14 of the KIT gene.
exon17 unknown unknown KIT exon 17 (amino acids 788-828) indicates an unspecified mutation has occurred in exon 17 of the KIT gene.
exon18 unknown unknown KIT exon 18 (amino acids 829-866) indicates an unspecified mutation has occurred in exon 18 of the KIT gene.
exon9 unknown unknown KIT exon 9 (amino acids 450-513) indicates an unspecified mutation has occurred in exon 9 of the KIT gene.
F522C missense gain of function - predicted KIT F522C lies within the transmembrane domain of the Kit protein (PMID: 15070706). F522C results in ligand independent autophosphorylation of Kit in cell culture in one study (PMID: 15070706) and therefore, is predicted to lead to a gain of Kit protein function.
F584S missense unknown KIT F584S lies within the cytoplasmic domain of the Kit protein (UniProt.org). F584S has been identified in sequencing studies (PMID: 11376557, PMID: 29719410), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
F811L missense unknown KIT F811L lies within the protein kinase domain of the Kit protein (UniProt.org). F811L has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
G387R missense unknown KIT G387R lies within the Ig-like C2-type domain 4 of the Kit protein (UniProt.org). G387R has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
G498S missense unknown KIT G498S lies within the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). G498S has been identified in the scientific literature (PMID: 31980996) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
G510C missense unknown KIT G510C lies within the extracellular domain (exon 9) of the Kit protein (UniProt.org). G510C has been identified in sequencing studies (PMID: 27626278), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
G51D missense unknown KIT G51D lies within the Ig-like C2-type domain 1 of the Kit protein (UniProt.org). G51D has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
G565* nonsense loss of function - predicted KIT G565* results in a premature truncation of the Kit protein at amino acid 565 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), G565* is predicted to lead to a loss of Kit protein function.
G565V missense unknown KIT G565V lies within the cytoplasmic domain of the Kit protein (UniProt.org). G565V has been identified in the scientific literature (PMID: 28843487), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
G565_T574delinsA indel gain of function - predicted KIT G565_T574delinsA results in the deletion of ten amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 565 to 574, combined with the insertion of an alanine (A) at the same site (PMID: 16226710). G565_T574delinsA has not been characterized, but can be predicted to result in a gain of function based on the effect of other Kit exon 11 deletion mutations (PMID: 9438854, PMID: 15365079).
G664R missense loss of function KIT G664R lies within the protein kinase domain of the Kit protein (UniProt.org). G664R results in a loss of Kit autophosphorylation, reduced phosphorylation upon ligand stimulation as compared to wild-type Kit in cell culture, and decreased downstream signaling, as demonstrated by reduced phosphorylation of Erk1/2 in patient samples (PMID: 20824047).
G779C missense unknown KIT G779C lies within the protein kinase domain of the Kit protein (UniProt.org). G779C has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
G812V missense unknown KIT G812V lies within the protein kinase domain of the Kit protein (UniProt.org). G812V has been identified in the scientific literature (PMID: 25960657) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
H630Y missense unknown KIT H630Y lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). H630Y has been identified in sequencing studies (PMID: 27027238), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
H697Y missense gain of function - predicted KIT H697Y lies within the protein kinase domain of the Kit protein (UniProt.org). H697Y is transforming in cultured cells in one study (PMID: 19861435) and therefore, is predicted to lead to a gain of Kit protein function.
I371S missense no effect - predicted KIT I371S lies within the Ig-like C2-type domain 4 of the Kit protein (UniProt.org). I371S results in SCF-induced Kit activation similar to wild-type protein in culture (PMID: 23020152), and therefore, is predicted to have no effect on Kit protein function.
I563_L576del deletion gain of function - predicted KIT I563_L576del results in the deletion of fourteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 563 to 576 (PMID: 12879016). I563_L576del has not been characterized, however similar Kit exon 11 deletions are activating, thus I563_L576del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
I571V missense unknown KIT I571V lies within the cytoplasmic domain of the Kit protein (UniProt.org). I571V has been identified in sequencing studies (PMID: 24983367) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
I571_D579dup duplication unknown KIT I571_D579dup (also referred to as D579_H580insIDPTQLPYD) indicates the insertion of 9 duplicate amino acids, isoleucine (I)-571 through aspartic acid (D)-579, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). I571_D579dup has been identified in sequencing studies (PMID: 19768731, PMID: 23291969), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
I571_L576del deletion gain of function - predicted KIT I571_L576del results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 571 to 576 (PMID: 12879016). I571_L576del has not been characterized, however similar Kit exon 11 deletions are activating, thus I571_L576del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
I653T missense unknown KIT I653T lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). I653T has been identified in the scientific literature (PMID: 21690468), but has not been been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
K509I missense gain of function KIT K509I lies within the extracellular domain (exon 9) of the Kit protein (UniProt.org). K509I results in constitutive phosphorylation of Kit, increased cell proliferation, and growth factor independent survival in cell culture (PMID: 19865100).
K509R missense unknown KIT K509R lies within the extracellular domain (exon 9) of the Kit protein (UniProt.org). K509R has been identified in sequencing studies (PMID: 27214377) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
K550_E554del deletion gain of function - predicted KIT K550_E554del results in the deletion of 5 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 554 (PMID: 16226710). K550_E554del has not been characterized, however similar Kit exon 11 deletions are activating, thus K550_E554del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
K550_K558del deletion gain of function KIT K550_K558del results in the deletion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 558 (PMID: 15824741). K550_K558del results in constitutive phosphorylation of Kit, transformation of cultured cells, and tumor formation in animal models (PMID: 9438854).
K550_V555delinsI indel gain of function - predicted KIT K550_V555delinsI results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 555, combined with the insertion of an isoleucine (L) at the same site (PMID: 16226710). K550_V555delinsI has not been characterized, but is predicted to lead to activation of Kit based on the effects of similar Kit exon 11 deletions (PMID: 9438854, PMID: 15365079).
K550_V559del deletion gain of function - predicted KIT K550_V559del results in the deletion of ten amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 559 (PMID: 16226710). K550_V559del has not been characterized, however similar Kit exon 11 deletions are activating, thus K550_V559del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
K550_W557del deletion gain of function - predicted KIT K550_W557del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 557 (PMID: 16226710). K550_W557del has not been characterized, however similar Kit exon 11 deletions are activating, thus K550_W557del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
K558* nonsense loss of function - predicted KIT K558* results in a premature truncation of the Kit protein at amino acid 558 of 976 (UniProt.org). Due to the loss of protein kinase domain (UniProt.org), K558* is predicted to lead to a loss of Kit protein function.
K558delinsNP indel unknown KIT K558delinsNP results in a deletion of lysine (K) at amino acid 558 within the juxtamembrane domain (exon 11) of the Kit protein, combined with the insertion of an asparagine (N) and a proline (P) at the same location (PMID: 16226710). K558delinsNP has been identified in the scientific literature (PMID: 11526490, PMID: 25239608, PMID: 20651400) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
K558E missense unknown KIT K558E lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). K558E has been identified in sequencing studies (PMID: 21387320, PMID: 21326036, PMID: 19264228), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
K558N missense unknown KIT K558N lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). K558N has been identified in sequencing studies (PMID: 21326036, PMID: 18294292), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
K558Q missense unknown KIT K558Q lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). K558Q has been identified in the scientific literature (PMID: 19333543, PMID: 19182535), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
K558R missense unknown KIT K558R lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). K558R has been identified in sequencing studies (PMID: 21569090), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
K558_D572del deletion gain of function - predicted KIT K558_D572del results in the deletion of fifteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 572 (PMID: 16226710). K558_D572del has not been characterized, however similar Kit exon 11 deletions are activating, thus K558_D572del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
K558_E562del deletion gain of function - predicted KIT K558_E562del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 562 (PMID: 12879016). K558_E562del has not been characterized, however similar Kit exon 11 deletions are activating, thus K558_E562del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
K558_G565delinsR indel gain of function - predicted KIT K558_G565delinsR results in the deletion of 9 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 565, combined with the insertion of an arginine (R) at the same site (PMID: 16226710). K558_G565delinsR results in constitutive phosphorylation of Kit in patient-derived xenograft models in one study (PMID: 25926077) and therefore, is predicted to lead to a gain of Kit protein function.
K558_N564del deletion gain of function - predicted KIT K558_N564del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 564 (PMID: 12879016). K558_N564del has not been characterized, however similar Kit exon 11 deletions are activating, thus K558_N564del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
K558_V559del deletion gain of function - predicted KIT K558_V559del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 559 (PMID: 12879016). K558_V559del has not been characterized, however similar Kit exon 11 deletions are activating, thus K558_V559del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
K558_V559insNP insertion unknown KIT K558_V559insNP results in an insertion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein between amino acids 558 and 559 (PMID: 16226710). K558_V559insNP has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
K558_V560del deletion gain of function - predicted KIT K558_V560del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 560 (PMID: 12879016). K558_V560del has not been characterized, however similar Kit exon 11 deletions are activating, thus K558_V560del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
K558_V560delinsN indel gain of function - predicted KIT K558_V560delinsN results in a deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 560, combined with the insertion of an asparagine (N) at the same site (PMID: 16226710). K558_V560delinsN has not been characterized, but can be predicted to result in a gain of function based on the effect of other Kit exon 11 deletion mutations (PMID: 9438854, PMID: 15365079).
K558_Y570delinsN indel gain of function - predicted KIT K558_Y570delinsN results in the deletion of thirteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 570, combined with the insertion of an asparagine (N) at the same site (PMID: 16226710). K558_Y570delinsN has not been characterized, but is predicted to activate Kit basing on the effects of similar exon 11 mutations (PMID: 9438854, PMID: 15365079).
K558_Y570delinsNP indel gain of function - predicted KIT K558_Y570delinsNP results in the deletion of thirteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 570, combined with the insertion of an asparagine (N) and a proline (P) at the same site (PMID: 16226710). K558_Y570delinsNP has not been characterized, but is predicted to activate Kit basing on the effects of similar exon 11 mutations (PMID: 9438854, PMID: 15365079).
K558_Y570delinsR indel gain of function - predicted KIT K558_Y570delinsR results in the deletion of thirteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 570, combined with the insertion of an arginine (R) at the same site (PMID: 16226710). K558_Y570delinsR has not been characterized, but is predicted to activate Kit basing on effects of similar exon 11 mutations (PMID: 9438854, PMID: 15365079).
K581_W582insDPTQLPYDH insertion unknown KIT K581_W582insDPTQLPYDH results in the insertion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein between amino acids 581 and 582 (PMID: 16226710). K581_W582insDPTQLPYDH has not been characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
K623M missense loss of function KIT K623M lies within the protein kinase domain of the Kit protein (UniProt.org). K623M results in a loss of Kit autophosphorylation, reduced phosphorylation upon ligand stimulation as compared to wild-type Kit, and decreased downstream signaling, as demonstrated by reduced phosphorylation of Erk1/2 in cell culture (PMID: 20824047).
K642E missense gain of function KIT K642E lies within the tyrosine kinase domain 1 (exon 13) of the Kit protein (PMID: 15990278). K642E results in constitutive phosphorylation of Kit and activation of downstream signaling (PMID: 15990278, PMID: 19802003), as well as transformation of cultured cells (PMID: 11073817).
K642Q missense unknown KIT K642Q lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). K642Q has been identified in sequencing studies (PMID: 28327988), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
K818R missense unknown KIT K818R lies within the protein kinase domain of the Kit protein (UniProt.org). K818R has been identified in sequencing studies (PMID: 17566038), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
L117I missense no effect - predicted KIT L117I lies within the extracellular domain of the Kit protein (UniProt.org). L117I results in SCF-induced Kit activation similar to wild-type protein in culture (PMID: 23020152), and therefore, is predicted to have no effect on Kit protein function.
L416fs frameshift loss of function - predicted KIT L416fs results in a change in the amino acid sequence of the Kit protein beginning at aa 416 of 976, likely resulting is a premature truncation of the protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), L416fs is predicted to lead to a loss of Kit protein function.
L576del deletion gain of function - predicted KIT L576del results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 576 (PMID: 9797363). L576del has not been characterized, however similar Kit exon 11 deletions are activating, thus L576del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
L576F missense unknown KIT L576F lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 17372901). L576F has been identified in sequencing studies (PMID: 21325067, PMID: 26774193, PMID: 17145623), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
L576P missense gain of function KIT L576P lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 17372901). L576P confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit, and is transforming in cell culture (PMID: 17372901).
L576R missense unknown KIT L576R lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 17372901). L576R has been identified in the scientific literature (PMID: 28843487, PMID: 28026870), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
L576_P585dup duplication unknown KIT L576_P585dup (also referred to as P585_R586insLPYDHKWEFP) indicates the insertion of 10 duplicate amino acids, leucine (L)-576 through proline (P)-585, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). P585_R586insLPYDHKWEFP has been identified in sequencing studies (PMID: 26822237), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
L631F missense unknown KIT L631F lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). L631F has been identified in the scientific literature (PMID: 28843487), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
L813_A814insHIV insertion unknown KIT L813_A814insHIV results in the insertion of three amino acids in the protein kinase domain of the Kit protein between amino acids 813 and 814 (UniProt.org). L813_A814insHIV has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
L813_V824dup duplication unknown KIT L813_V824dup indicates the insertion of 12 duplicate amino acids, leucine (L)-813 through valine (V)-824, in the protein kinase domain of the Kit protein (UniProt.org). L813_V824dup has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
L859F missense unknown KIT L859F lies within the protein kinase domain of the Kit protein (UniProt.org). L859F has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
L859S missense unknown KIT L859S lies within the protein kinase domain of the Kit protein (UniProt.org). L859S has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
M537L missense unknown KIT M537L (corresponds to M541L in the canonical isoform) lies within the transmembrane domain of the Kit protein (PMID: 16226710). M537L (M541L) is a common polymorphism that has been demonstrated to increase proliferation in the presence of ligand compared to wild-type Kit in culture (PMID: 18795925), but is not associated with tumorigenesis in the population (PMID: 16307017, PMID: 21757432) and therefore, its effect on Kit protein function is unknown.
M541L missense unknown KIT M541L lies within the transmembrane domain of the Kit protein (PMID: 16226710). M541L is a common polymorphism that has been demonstrated to increase proliferation in the presence of ligand compared to wild-type Kit in culture (PMID: 18795925), but is not associated with tumorigenesis in the population (PMID: 16307017, PMID: 21757432), and therefore, its effect on Kit protein function is unknown.
M541V missense unknown KIT M541V lies within the transmembrane domain of the Kit protein (PMID: 16226710). M541V has not been characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
M552L missense unknown KIT M552L lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). M552L has been identified in sequencing studies (PMID: 12759497), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
M552_D572del deletion gain of function - predicted KIT M552_D572del results in the deletion of twenty one amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 572 (PMID: 16226710). M552_D572del has not been characterized, however similar Kit exon 11 deletions are activating, thus M552_D572del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
M552_E554del deletion gain of function - predicted KIT M552_E554del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 554 (PMID: 12879016). M552_E554del has not been characterized, however similar Kit exon 11 deletions are activating, thus M552_E554del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
M552_E554delinsK indel gain of function - predicted KIT M552_E554delinsK results in the deletion of 3 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 554, combined with the insertion of a lysine (K) at the same site (PMID: 16226710). M552_E554delinsK has not been characterized, but is predicted to lead to Kit activation based on the effects of similar Kit exon 11 mutations (PMID: 9438854, PMID: 15365079).
M552_K558del deletion gain of function - predicted KIT M552_K558del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 and 558 (PMID: 16226710). M552_K558del has not been characterized, however similar Kit exon 11 deletions are activating, thus M552_K558del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
M552_Q556del deletion gain of function - predicted KIT M552_Q556del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 and 556 (PMID: 12879016) M552_Q556del has not been characterized, however similar Kit exon 11 deletions are activating, thus M552_Q556del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
M552_V555del deletion gain of function - predicted KIT M552_V555del results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 555 (PMID: 16226710). M552_V555del has not been characterized, however similar Kit exon 11 deletions are activating, thus M552_V555del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
M552_V559del deletion gain of function - predicted KIT M552_V559del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 559 (PMID: 20633291). K550_K558del results in constitutive Kit phosphorylation in cell culture in one study (PMID: 20633291) and therefore, is predicted to lead to a gain of Kit protein function.
M552_V559delinsI indel gain of function - predicted KIT M552_V559delinsI results in the deletion of 8 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 559, combined with the insertion of an isoleucine (I) at the same site (PMID: 16226710). M552_V559delinsI has not been characterized, but is predicted to activate Kit based on the effects of similar Kit exon 11 mutations (PMID: 9438854, PMID: 15365079).
M552_W557del deletion gain of function - predicted KIT M552_W557del results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 and 557 (PMID: 16226710). M552_W557del has not been characterized, however similar Kit exon 11 deletions are activating, thus M552_W557del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
M552_Y553del deletion gain of function - predicted KIT M552_Y553del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 553 (PMID: 15897563). M552_Y553del has not been characterized, however similar Kit exon 11 deletions are activating, thus M552_Y553del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
M722V missense no effect - predicted KIT M722V lies within the protein kinase domain of the Kit protein (UniProt.org). M722V results in activation of JAK/STAT and NF-kappaB signaling similar to wild-type Kit in an in vitro assay(PMID: 29464843), and therefore, is predicted to have no effect on Kit protein function.
mutant unknown unknown KIT mutant indicates an unspecified mutation in the KIT gene.
N320fs frameshift loss of function - predicted KIT N320fs results in a change in the amino acid sequence of the Kit protein beginning at aa 320 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), N320fs is predicted to result in a loss of Kit protein function.
N463S missense unknown KIT N463S lies within the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). N463S has been identified in sequencing studies (PMID: 21642685), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
N505I missense gain of function KIT N505I lies within the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). N505I results in constitutive phosphorylation of Kit, activation of downstream Akt and Erk, and is transforming in cell culture (PMID: 24317392).
N564_L576del deletion gain of function - predicted KIT N564_L576del results in the deletion of thirteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 564 to 576 (PMID: 12879016). N564_L576del has not been characterized, however similar Kit exon 11 deletions are activating, thus N564_L576del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
N564_Y578del deletion gain of function - predicted KIT N564_Y578del results in the deletion of fifteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 564 to 578 (PMID: 12879016). N564_Y578del has not been characterized, however similar Kit exon 11 deletions are activating, thus N564_Y578del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
N566D missense unknown KIT N566D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). N566D has been identified in sequencing studies (PMID: 16908931, PMID: 20651400), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
N567K missense unknown KIT N567K lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). N567K has been identified in sequencing studies (PMID: 15217946), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
N567_P573del deletion gain of function - predicted KIT N567_P573del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 567 to 573 (PMID: 16226710). N567_P573del has not been characterized, however similar Kit exon 11 deletions are activating, thus N567_P573del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
N655K missense gain of function - predicted KIT N655K lies within the tyrosine kinase domain 1 (exon 13) of the Kit protein (PMID: 17555444). N655K results in constitutive phosphorylation of Kit in cell culture in one study (PMID: 17489795) and therefore, is predicted to lead to a gain of Kit protein function.
N80S missense unknown KIT N80S lies within the Ig-like C2-type domain 1 of the Kit protein (UniProt.org). N80S has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
N822H missense unknown KIT N822H lies within the protein kinase domain of the Kit protein (UniProt.org). N822H has been identified in sequencing studies (PMID: 11719439, PMID: 17875769), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
N822I missense gain of function KIT N822I lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). N822I results in constitutive Kit phosphorylation, is transforming in cell culture, and confers resistance to imatinib (PMID: 21689725). Y
N822K missense gain of function KIT N822K lies within the activation loop in the protein kinase domain of the Kit protein (PMID: 24205792). N822K results in constitutive activation of Kit, increased Erk1/2 and Stat3 phosphorylation, is transforming in culture (PMID: 24205792, PMID: 31484543), leads to mislocalization of Kit to endolysosomes (PMID: 31484543), and has been identified as a secondary mutation associated with imatinib-resistance (PMID: 18488160). Y
N822Y missense gain of function - predicted KIT N822Y lies within the protein kinase domain of the Kit protein (UniProt.org). N822Y results in constitutive phosphorylation of Kit in culture in one study (PMID: 30094412) and therefore, is predicted to lead to a gain of Kit protein function.
negative unknown loss of function KIT negative indicates a lack of the KIT gene,mRNA, and/or protein.
over exp none no effect KIT over exp indicates an over expression of the KIT protein. However, the mechanism causing the over expression is unspecified.
P551H missense unknown KIT P551H lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). P551H has been identified in sequencing studies (PMID: 17200352, PMID: 15930355) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2020).
P551L missense unknown KIT P551L lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). P551L has been identified in sequencing studies (PMID: 21325067, PMID: 18729075), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2020).
P551_E554del deletion gain of function - predicted KIT P551_E554del results in the deletion of 4 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 554 (PMID: 16226710). P551_E554del has not been characterized, however similar Kit exon 11 deletions are activating, thus P551_E554del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
P551_M552delinsL indel gain of function - predicted KIT P551_M552delinsL results in the deletion of 2 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 552, combined with the insertion of a leucine (L) at the same site (PMID: 16226710). P551_M552delinsL has not been characterized, but is predicted to activate Kit based on the effects of similar Kit exon 11 mutations (PMID: 9438854, PMID: 15365079).
P551_Q556del deletion gain of function - predicted KIT P551_Q556del results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 556 (PMID: 16226710). P551_Q556del has not been characterized, however similar Kit exon 11 deletions are activating, thus P551_Q556del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
P551_V555del deletion gain of function KIT P551_V555deI results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 555 (PMID: 9438854). P551_V555del confers a gain of function on Kit, as indicated by constitutive Kit phosphorylation, and is transforming in cell culture (PMID: 9438854).
P551_V555delinsTL indel gain of function - predicted KIT P551_V555delinsTL results in a deletion of 5 amino acids within the juxtamembrane domain (exon 11) of the Kit protein, combined with the insertion of a threonine (T) and a leucine (L) at the same site (PMID: 12879016). P551_V555delinsTL has not been characterized, but is predicted to lead to a gain of function based on the effect of similar Kit exon 11 mutations (PMID: 9438854, PMID: 15365079).
P551_W557delinsL indel gain of function - predicted KIT P551_W557delinsL results in the deletion of 7 amino acids in the juxtamembrane domain (exon 11) of the Kit protein combined with the insertion of a leucine (L) in the same location (PMID: 16226710). P551_W557delinsL has not been characterized, however similar Kit exon 11 mutations are activating, thus P551_W557delinsL is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
P573L missense unknown KIT P573L lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). P573L has been identified in the scientific literature (PMID: 30171333, PMID: 21680547), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2020).
P577del deletion gain of function - predicted KIT P577del results in the deletion of one amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 577 (PMID: 12879016). P577del has not been characterized, however, other Kit exon 11 deletions are activating, thus P577del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
P577S missense unknown KIT P577S lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). P577S has been identified in sequencing studies (PMID: 22261812, PMID: 26774193), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
P577_D579del deletion gain of function - predicted KIT P577_D579del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 577 to 579 (UniProt.org). P577_D579del has not been characterized, however, similar Kit exon 11 deletions are activating, thus P577_D579del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
P577_E583dup duplication unknown KIT P577_E583dup (also referred to as E583_F584insPYDHKWE) indicates the insertion of 7 duplicate amino acids, proline (P)-577 through glutamic acid (E)-583, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). P577_E583dup has been identified in sequencing studies (PMID: 19768731), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
P577_H580dup duplication unknown KIT P577_H580dup (also referred to as H580_K581insPYDH) indicates the insertion of 4 duplicate amino acids, proline (P)-577 through histidine (H)-580, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). P577_H580dup has been identified in sequencing studies (PMID: 18006774, PMID: 23291969, PMID: 19768731) and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
P754fs frameshift loss of function - predicted KIT P754fs results in a change in the amino acid sequence of the Kit protein beginning at aa 754 of 976 (UniProt.org), likely resulting in premature truncation of the functional protein. Due to the disruption of the protein kinase domain, P754fs is predicted to lead to a loss of Kit protein function (UniProt.org).
P838L missense unknown KIT P838L lies within the protein kinase domain of the Kit protein (UniProt.org). P838L has been identified in sequencing studies (PMID: 21642685) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
P838S missense no effect - predicted KIT P838S lies within the protein kinase domain of the Kit protein (UniProt.org). P838S results in activation of JAK/STAT and NFkappaB signaling similar to wild-type Kit in an in vitro assay (PMID: 29464843), and therefore, is predicted to have no effect on Kit protein function.
P874L missense unknown KIT P874L lies within the protein kinase domain of the Kit protein (UniProt.org). P874L corresponds to P875L in an alternate isoform, which results in similar levels of autophosphorylation but decreased transformation relative to wild-type in culture (PMID: 30926633), and therefore, its effect on Kit protein function is unknown.
P875L missense unknown KIT P875L (corresponds to P874L in the canonical isoform) lies within the protein kinase domain of the Kit protein (UniProt.org). P875L results in similar levels of autophosphorylation but decreased transformation relative to wild-type in culture (PMID: 30926633), and therefore, its effect on Kit protein function is unknown.
positive unknown unknown KIT positive indicates the presence of the KIT gene, mRNA, and/or protein.
Q556_K558del deletion gain of function - predicted KIT Q556_K558del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 558 (PMID: 16226710). Q556_K558del results in constitutive phoaphorylation of Kit in culture in one study (PMID: 30094412) and therefore, is predicted to lead to a gain of Kit protein function.
Q556_V559del deletion gain of function - predicted KIT Q556_V559del results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 559 (PMID: 16226710). Q556_V559del has not been characterized, however similar Kit exon 11 deletions are activating, thus Q556_V559del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
Q556_V559delinsH indel gain of function - predicted KIT Q556_V559delinsH results in the deletion of 4 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 559, combined with the insertion of a histidine (H) at the same site (PMID: 16226710). Q556_V559delinsH has not been characterized, but is predicted to activate Kit basing on the effects of similar Kit exon 11 mutations (PMID: 9438854, PMID: 15365079).
Q556_V560del deletion gain of function - predicted KIT Q556_V560del results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 560 (PMID: 16226710). Q556_V560del has not been characterized, however similar Kit exon 11 deletions are activating, thus Q556_V560del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 9797363).
Q556_W557del deletion gain of function - predicted KIT Q556_W557del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 557 (PMID: 16226710). Q556_W557del has not been characterized, however similar Kit exon 11 deletions are activating, thus Q556_W557del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
R135H missense no effect - predicted KIT R135H lies within the Ig-like C2-type domain 2 of the Kit protein (UniProt.org). R135H results in SCF-induced Kit activation similar to wild-type protein in culture (PMID: 23020152), and therefore, is predicted to have no effect on Kit protein function.
R634L missense unknown KIT R634L lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). R634L has been identified in the scientific literature (PMID: 28843487), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020)
R634W missense gain of function KIT R634W lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). R634W confers a gain of function to the Kit protein as demonstrated by constitutive Kit phosphorylation, increased Stat3 and Stat5 phosphorylation, and is transforming in cell culture (PMID: 15790786).
R686C missense loss of function - predicted KIT R686C lies within the protein kinase domain of the Kit protein (UniProt.org). R686C results in decreased SCF-induced Kit activation in culture (PMID: 23020152), and therefore, is predicted to result in a loss of Kit protein function.
R796G missense loss of function KIT R796G lies within the protein kinase domain of the Kit protein (UniProt.org). R796G confers a loss of function on Kit as indicated by lack of autophosphorylation, loss of ligand-induced phosphorylation of Kit in cultured cells (PMID: 20824047).
R804W missense unknown KIT R804W lies within the activation loop in the kinase domain of the Kit protein (PMID: 21478825). R804W is predicted to have lower binding affinity for imatinib relative to wild-type Kit protein (PMID: 20140688), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
R888Q missense loss of function - predicted KIT R888Q lies within the protein kinase domain of the Kit protein (UniProt.org). R888Q results in decreased SCF-induced Kit activation in culture (PMID: 23020152), and therefore, is predicted to result in a loss of Kit protein function.
rearrange unknown unknown KIT rearrangement indicates an unspecified rearrangement of the KIT gene.
S197* nonsense loss of function - predicted KIT S197* results in a premature truncation of the Kit protein at amino acid 197 of 976 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), S197* is predicted to lead to a loss of Kit protein function.
S476I missense gain of function KIT S476I lies within the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). S476I confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit in cell culture (PMID: 19865100, PMID: 30094412).
S501_A502dup duplication gain of function - predicted KIT S501_A502dup (also referred to as A502_Y503insSA) indicates the insertion of two duplicate amino acids, serine (S)-501 through alanine (A)-502, in the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). S501_A502dup results in constitutive phosphorylation of Kit in primary and cultured cells in one study (PMID: 22324351) and therefore, is predicted to lead to a gain of Kit protein function.
S501_A502insSAY insertion gain of function - predicted KIT S501_A502insSAY results in an insertion of three amino acids in the Ig-like C2-type 5 domain (exon 9) of the Kit protein between amino acids 501 and 502 (UniProt.org). S501_A502insSAY has not been characterized, however similar insertions in this domain are activating, thus S501_A502insSAY is predicted to lead to a gain of Kit protein function (PMID: 22324351, PMID: 24127596).
S628N missense gain of function KIT S628N lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). S628N results in constitutive Kit phosphorylation and activation of downstream Stat3, Akt and Erk1/2, and is transforming in cell culture (PMID: 25317746).
S709F missense unknown KIT S709F lies within the protein kinase domain of the Kit protein (UniProt.org). S709F has been identified in the scientific literature (PMID: 30140695), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
S715del deletion unknown KIT S715del results in the deletion of an amino acid within the protein kinase domain of the Kit protein at amino acid 715 (UniProt.org). S715del has been identified in sequencing studies (PMID: 11786393), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
T22A missense unknown KIT T22A lies within the signal peptide region of the Kit protein (UniProt.org). T22A has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
T274M missense loss of function - predicted KIT T274M lies within the Ig-like C2-type domain 3 of the Kit protein (UniProt.org). T274M results in reduced Kit activation by SCF in cell culture (PMID: 23020152), and therefore, is predicted to result in a loss of Kit protein function.
T417_D419delinsI indel gain of function - predicted KIT T417_D419delinsI results in the deletion of 3 amino acids in the Ig-like C2-type domain 5 of the Kit protein from amino acids 417 to 419, combined with the insertion of an Isoleucine (I) at the same site (UniProt.org). T417_D419delinsI results in constitutive ligand-independent phosphorylation of Kit in cell culture in one study (PMID: 16015387) and therefore, is predicted to lead to a gain of Kit protein function.
T417_D419delinsRA indel gain of function - predicted KIT T417_D419delinsRA results in the deletion of three amino acids in the extracellular domain of the Kit protein from amino acids 417 to 419, combined with the insertion of an arginine (R) and an alanine (A) at the same site (UniProt.org). T417_D419delinsRA has not been characterized, however similar Kit exon 8 mutations are activating, thus T417_D419delinsRA is predicted to lead to a gain of Kit protein function (PMID: 16015387, PMID: 15618474, PMID: 20484085).
T417_D419delinsY indel gain of function KIT T417_D419delinsY results in the deletion of three amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 417 to 419, combined with the insertion of a Tyrosine (Y) at the same site (UniProt.org). T417_D419delinsY results in constitutive phosphorylation of Kit (PMID: 16015387), activation of Akt and Stat pathways, and is transforming in culture (PMID: 20484085).
T417_Y418delinsH indel gain of function - predicted KIT T417_Y418delinsH results in the deletion of two amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 417 to 418, combined with the insertion of an Histidine (H) at the same site (UniProt.org). T417_Y418delinsH has not been characterized, however similar Kit exon 8 mutations are activating, thus T417_Y418delinsH is predicted to lead to a gain of Kit protein function (PMID: 16015387, PMID: 15618474, PMID: 20484085).
T632I missense unknown KIT T632I lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). T632I has been identified in the scientific literature (PMID: 31043947), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2020). Y
T670A missense unknown KIT T670A lies within the protein kinase domains of the Kit protein (UniProt.org). T670A results in weak phosphorylation of the Kit protein when present with KIT V559del in cultured cells (PMID: 19176456), but has not been individually characterized and therefore, its effect on Kit protein function is unknown.
T670E missense unknown KIT T670E lies within the protein kinase domain of the Kit protein (UniProt.org). T670E has been identified in sequencing studies (PMID: 25886408, PMID: 19834613), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
T670I missense gain of function KIT T670I lies within the ATP pocket in the protein kinase domain of the Kit protein (PMID: 15236194, PMID: 22355224). T670I confers a gain of function on Kit as indicated by constitutive Kit phosphorylation, is transforming in cultured cells, and is associated with resistance to Kit inhibitors (PMID: 17699867, PMID: 15236194). Y
T670S missense unknown KIT T670S lies within the protein kinase domain of the Kit protein (UniProt.org). T670S has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
T670V missense unknown KIT T670V lies within the protein kinase domain of the Kit protein (UniProt.org). T670V has been identified in the scientific literature (PMID: 31270078), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
T67S missense unknown KIT T67S lies within the Ig-like C2-type domain 1 of the Kit protein (UniProt.org). T67S has been identified in sequencing studies (PMID: 27601595), but has not been biochemically characterized and therefore, its effect on the Kit protein function is unknown (PubMed, Apr 2020).
V399I missense unknown KIT V399I lies within the Ig-like C2-type domain 4 of the Kit protein (UniProt.org). V399I has been identified in sequencing studies (PMID: 15150569, PMID: 29483209, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
V530I missense gain of function KIT V530I lies within the transmembrane domain of the Kit protein (PMID: 16081693). V530I confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit and activation of Akt, Mapk, Stat3, and Stat5 in cell culture (PMID: 16081693).
V532I missense unknown KIT V532I lies within the transmembrane domain of the Kit protein (UniProt.org). V532I has been identified in the scientific literature (PMID: 30446805, PMID: 25894969), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
V555I missense unknown KIT V555I lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V555I has been identified in the scientific literature (PMID: 30851333), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
V555_E562del deletion gain of function - predicted KIT V555_E562del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 562 (PMID: 16226710). V555_E562del has not been characterized, however similar Kit exon 11 deletions are activating, thus V555_E562del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
V555_I571del deletion gain of function - predicted KIT V555_I571del results in the deletion of seventeen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 571 (PMID: 16226710). V555_I571del has not been characterized, however similar Kit exon 11 deletions are activating, thus V555_I571del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
V555_K558del deletion gain of function - predicted KIT V555_K558del results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 558 (PMID: 16226710). V555_K558del has not been characterized, however similar Kit exon 11 deletions are activating, thus V555_K558del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V555_L576del deletion gain of function - predicted KIT V555_L576del results in the deletion of twenty-two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 576 (PMID: 16226710). V555_I576del has not been characterized, however similar Kit exon 11 deletions are activating, thus V555_I576del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
V555_P573del deletion gain of function - predicted KIT V555_P573del results in the deletion of nineteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 573 (PMID: 16226710). V555_P573del has not been characterized, however similar Kit exon 11 deletions are activating, thus V555_P573del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V555_Q556del deletion gain of function - predicted KIT V555_Q556del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 556 (PMID: 16226710). V555_Q556del has not been characterized, however similar Kit exon 11 deletions are activating, thus V555_Q556del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V555_V559del deletion gain of function - predicted KIT V555_V559del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 55 to 559 (PMID: 16226710). V555_V559del has not been characterized, however similar Kit exon 11 deletions are activating, thus V555_V559del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V555_V560del deletion gain of function - predicted KIT V555_V560del results in the deletion of six amino acids from the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 560 (PMID: 16226710). V555_V560del has not been characterized, however similar Kit exon 11 deletions are activating, thus KV555_V560del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V556_L576del deletion gain of function - predicted KIT V556_L576del results in the deletion of twenty-one amino acids in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V556_L576 has not been characterized, however similar Kit exon 11 deletions are activating, thus V556_L576del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V556_T574del deletion gain of function - predicted KIT V556_T574del results in the deletion of 19 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 574 (PMID: 16226710). V556_T574del has not been characterized, however similar Kit exon 11 deletions are activating, thus V556_T574del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V556_V560del deletion gain of function - predicted KIT V556_V560del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 560 (PMID: 16226710). V556_V560del has not been characterized, however similar Kit exon 11 deletions are activating, thus K556_V560del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V559A missense gain of function KIT V559A lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 15837988). V559A results in constitutive phosphorylation of Kit and increased Mapk and Akt activation in patient samples and cultured cells (PMID: 15837988, PMID: 19047099).
V559C missense unknown KIT V559C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V559C has been identified in sequencing studies (PMID: 25695690, PMID: 15869870), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
V559D missense gain of function KIT V559D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 9438854). V559D confers a gain of function on Kit, as indicated by constitutive Kit phosphorylation, and is transforming in cell culture (PMID: 9438854, PMID: 21689725).
V559fs frameshift loss of function - predicted KIT V559fs results in a change in the amino acid sequence of the Kit protein beginning at aa 559 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), V559fs is predicted to lead to a loss of Kit protein function.
V559G missense gain of function - predicted KIT V559G lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). V559G results in constitutive phosphorylation of Kit in patient sample in one stufy (PMID: 15897563) and therefore, is predicted to lead to a gain of Kit protein function.
V559I missense gain of function KIT V559I lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 17259998). V559I confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit and increased phosphorylation of Stat1 and Mapk in cell culture (PMID: 17259998).
V559K missense unknown KIT V559K lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V559K has been identified in sequencing studies (PMID: 20861712), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
V559X missense unknown KIT V559X indicates any Kit missense mutation that results in the replacement of the valine (V) at amino acid 559 by a different amino acid.
V559_E561del deletion gain of function - predicted KIT V559_E561del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 561 (PMID: 12879016). V559_E561del has not been characterized, however similar Kit exon 11 deletions are activating, thus V559_E561del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V559_G565del deletion gain of function - predicted KIT V559_G565del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 565 (PMID: 12879016). V559_G565del has not been characterized, however similar Kit exon 11 deletions are activating, thus V559_G565del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V559_T574del deletion gain of function - predicted KIT V559_T574del results in the deletion of sixteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 574 (PMID: 16226710). V559_T574del has not been characterized, however similar Kit exon 11 deletions are activating, thus V559_T574del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V559_V560del deletion gain of function KIT V559_V560del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 560 (UniProt.org). V559_V560del confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit, is transforming in cell culture, and promotes tumor formation in mice (PMID: 9797363).
V559_V560delinsS indel gain of function - predicted KIT V559_V560delinsS results in a deletion of 2 amino acids within the juxtamembrane domain (exon 11) of the Kit protein, combined with the insertion of a serine (S) at the same site (PMID: 12879016). V559_V560delinsS has not been characterized, but is predicted to lead to a gain of Kit protein function based on the effect of similar Kit exon 11 mutations (PMID: 9438854, PMID: 15365079).
V560A missense gain of function - predicted KIT V560A lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V560A results in increased autophosphorylation of Kit in cultured cells in one study (PMID: 10224103) and therefore, is predicted to lead to a gain of Kit protein function.
V560D missense gain of function KIT V560D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 19164557). V560D confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit in cell culture (PMID: 16954519, PMID: 20633291).
V560del deletion gain of function KIT V560del (also reported as V559del) results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 560 (PMID: 12879016). V560del confers a gain of function to Kit, resulting in constitutive, ligand independent phosphorylation of Kit and activation of Akt in cell culture (PMID: 15236194, PMID: 22282465), and transformation of cultured cells (PMID: 19861435).
V560dup duplication unknown KIT V560dup indicates the insertion of the duplicate amino acid, valine (V)-560, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V560dup has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Aug 2020).
V560E missense unknown KIT V560E lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). V560E has been identified in the scientific literature (PMID: 25695690) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
V560G missense gain of function KIT V560G lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 9438854). V560G confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit and activation of the Jak/Stat pathway (PMID: 7691885, PMID: 23777495, PMID: 31484543), and leads to mislocalization of Kit to endolysosomes in cell culture (PMID: 31484543).
V560_L576del deletion gain of function - predicted KIT V560_L576del results in the deletion of seventeen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 560 to 576 (PMID: 12879016). V560_L576del has not been characterized, however similar Kit exon 11 deletions are activating, thus V560_L576del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V560_Y578del deletion gain of function - predicted KIT V560_Y578del results in the deletion of eighteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 560 to 578 (PMID: 12879016). V560_Y578del has not been characterized, however, similar Kit exon 11 deletions are activating, thus V560_Y578del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
V569_L576del deletion gain of function - predicted KIT V569_L576del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 569 and 576 (PMID: 12879016) V569_L576del has not been characterized, however, similar Kit exon 11 deletions are activating, thus V569_L576del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
V603D missense unknown KIT V603D lies within the protein kinase domain of the Kit protein (UniProt.org). V603D has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
V643A missense unknown KIT V643A lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). V643A has been identified in sequencing studies (PMID: 19617878), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
V654A missense unknown KIT V654A lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). V654A has been described as a secondary drug resistance mutation (PMID: 17363509, PMID: 16751810) and results in increased proliferation of cultured cells, but is not transforming and does not result in constitutive kinase activation (PMID: 17363509), and therefore, its effect on Kit protein function is unknown. Y
V654X missense unknown KIT V654X indicates any Kit missense mutation which results in the replacement of the valine (V) at amino acid 654, in the tyrosine kinase domain (exon 13) of the Kit protein, by a different amino acid (UniProt.org).
V825A missense unknown KIT V825A lies within the protein kinase domain of the Kit protein (UniProt.org). V825A leads to cell growth in vitro when combined with the RUNX1-ETO fusion (PMID: 24897507), but has not been characterized individually and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
V825I missense unknown KIT V825I lies within the protein kinase domain of the Kit protein (UniProt.org). V825I has been identified in sequencing studies (PMID: 16460801), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
V852I missense no effect - predicted KIT V852I lies within the protein kinase domain of the Kit protein (UniProt.org). V852I results in activation of JAK/STAT and NFkappaB signaling similar to wild-type Kit in an in vitro assay (PMID: 29464843), and therefore, is predicted to have no effect on Kit protein function.
W557C missense unknown KIT W557C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). W557C has been identified in the scientific literature (PMID: 28327988) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
W557del deletion gain of function - predicted KIT W557del results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acids 557 (PMID: 12918066). W557del has not been characterized, however similar Kit exon 11 deletions are activating, thus W557del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 9797363).
W557F missense unknown KIT W557F lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). W557F has been identified in the scientific literature (PMID: 19585585), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
W557G missense gain of function - predicted KIT W557G lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). W557G results in constitutive phosphorylation of Kit in cell culture in one study (PMID: 23567324) and therefore, is predicted to lead to a gain of Kit protein function.
W557Lfs*5 frameshift loss of function - predicted KIT W557Lfs*5 indicates a shift in the reading frame starting at amino acid 557 and terminating 5 residues downstream causing a premature truncation of the 976 amino acid Kit protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W557Lfs*5 is predicted to result in a loss of Kit protein function.
W557R missense gain of function KIT W557R lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 15790786). W557R has been identified in the scientific literature (PMID: 15869870) but has not been biochemically characterized and therefore, its effect on Kit protein funciton is unknown (PubMed, Sep 2018).
W557S missense unknown KIT W557S lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). W557S has been identified in sequencing studies (PMID: 17438095) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
W557_E561del deletion gain of function - predicted KIT W557_E561del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 561 (PMID: 16226710). W557_E561del has not been characterized, however similar Kit exon 11 deletions are activating, thus W557_E561del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
W557_K558del deletion gain of function KIT W557_K558del results in the deletion of 2 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 558 (PMID: 12918066). W557_K558del results in constitutive activation of Kit and increased Erk phosphorylation, and leads to increased invasiveness and expression of ETV1 in cell culture (PMID: 25239608, PMID: 26936919).
W557_K558delinsC indel gain of function - predicted KIT W557_K558delinsC results in the deletion of 2 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 558, combined with the insertion of a cystine (C) at the same site (PMID: 16226710). W557_K558delinsC has not been characterized, but is predicted to activate Kit basing on the effects of similar Kit exon 11 mutations (PMID: 9438854, PMID: 15365079).
W557_K558delinsCE indel gain of function - predicted KIT W557_K558delinsCE results in the deletion of 2 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 558, combined with the insertion of a cystine (C) and a glutamic acid (E) at the same site (PMID: 16226710). W557_K558delinsCE has not been characterized, but is predicted to activate Kit basing on the effects of similar Kit exon 11 mutations (PMID: 9438854, PMID: 15365079).
W557_K558delinsE indel gain of function - predicted KIT W557_K558delinsE results in the deletion of 2 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 558, combined with the insertion of a glutamic acid (E) at the same site (PMID: 16226710). W557_K558delinsE has not been characterized, but is predicted to activate Kit basing on the effects of similar Kit exon 11 mutations (PMID: 9438854, PMID: 15365079).
W557_K558delinsF indel gain of function - predicted KIT W557_K558delinsF results in the deletion of 2 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 558, combined with the insertion of a phenylalanine (F) at the same site (PMID: 16226710). KIT W557_K558delinsF has not been characterized, but is predicted to activate Kit basing on the effects of similar Kit exon 11 mutations (PMID: 9438854, PMID: 15365079).
W557_V559del deletion gain of function - predicted KIT W557_V559del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 559 (PMID: 16226710). W557_V559del has not been characterized, however similar Kit exon 11 deletions are activating, thus W557_V559del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 9797363).
W557_V559delinsC indel gain of function - predicted KIT W557_V559delinsC results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 559, combined with the insertion of a cysteine (C) at the same site (PMID: 16226710). W557_V559delinsC has not been characterized, but can be predicted to result in a gain of function based on the effect of other Kit exon 11 deletion mutations (PMID: 9438854, PMID: 15365079).
W557_V559delinsF indel gain of function - predicted KIT W557_V559delinsF results in the deletion of 3 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 559, combined with the insertion of a phenylalanine (F) at the same site (PMID: 16226710). KIT W557_V559delinsF has not been characterized, however, similar Kit exon 11 deletions are activating, thus K550_E554del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
W557_V560del deletion gain of function - predicted KIT W557_V560del results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 560 (PMID: 16226710). W557_V560del has not been characterized, however similar Kit exon 11 deletions are activating, thus W557_V560del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 9797363).
W582* nonsense loss of function - predicted KIT W582* results in a premature truncation of the Kit protein at amino acid 582 of 976 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W582* is predicted to lead to a loss of Kit protein function.
W853* nonsense unknown KIT W853* results in a premature truncation of the Kit protein at amino acid 853 of 976 (UniProt.org). W853* has been identified in sequencing studies (PMID: 21325067), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
wild-type none no effect Wild-type KIT indicates that no mutation has been detected within the KIT gene.
Y418_D419delinsG indel gain of function - predicted KIT Y418_D419delinsG results in the deletion of two amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 418 to 419, combined with the insertion of a Glycine (G) at the same site (UniProt.org). Y418_D419delinsG has not been characterized, however similar Kit exon 8 mutations are activating, thus Y418_D419delinsG is predicted to lead to a gain of Kit protein function (PMID: 16015387, PMID: 15618474, PMID: 20484085).
Y418_D419delinsS indel gain of function - predicted KIT Y418_D419delinsS results in the deletion of two amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 418 to 419, combined with the insertion of a Serine (S) at the same site (UniProt.org). Y418_D419delinsS is predicted to lead to a gain of Kit protein function because other AML-associated KIT exon 8 deletion mutations are activating (PMID: 16015387).
Y503delinsFAH indel unknown KIT Y503delinsFAH results in the deletion of a tyrosine (Y) at amino acid 503 within the Ig-like C2-type domain 5 (exon 9) of the Kit protein, combined with the insertion of three amino acids at the same site (UniProt.org). Y503delinsFAH has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, May 2020).
Y553C missense unknown KIT Y553C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553C has been identified in sequencing studies (PMID: 23106360), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
Y553N missense unknown KIT Y553N lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553N is predicted to stabilize the active conformation of Kit by structural modeling (PMID: 23588081), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
Y553S missense unknown KIT Y553S lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553S has been identified as a secondary mutation associated with imatinib-resistance (PMID: 18488160), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020). Y
Y553_E561delinsLK indel gain of function - predicted KIT Y553_E561delinsLK results in the deletion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 553 to 561, combined with the insertion of a leucine (L) and a lysine (K) at the same site (PMID: 16226710). Y553_E561delinsLK has not been characterized, but is predicted to activate Kit basing on the effects of similar Kit exon 11 mutations (PMID: 9438854, PMID: 15365079).
Y553_K558del deletion gain of function - predicted KIT Y553_K558del results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 553 to 558 (PMID: 16226710). Y553_K558del has not been characterized, however similar Kit exon 11 deletions are activating, thus Y553_K558del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 12727838).
Y553_Q556del deletion gain of function KIT Y553_Q556del results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 553 to 556 (PMID: 16226710). Y553_Q556del confers a gain of function on Kit, as indicated by autophosphorylation of Kit, activation of Stat3 and Akt (PMID: 15690055), and increased Hmgb1 expression in patient samples (PMID: 12727838).
Y553_W557del deletion gain of function - predicted KIT Y553_W557del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 553 to 557 (PMID: 16226710). Y553_W557del has not been characterized, however similar Kit exon 11 deletions are activating, thus Y553_W557del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 12727838).
Y568D missense unknown KIT Y568D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 23416972). Y568D has been identified in sequencing studies (PMID: 28334439), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
Y568_L576delinsCV indel gain of function - predicted KIT Y568_L576delinsCV results in a deletion of 9 amino acids within the juxtamembrane domain (exon 11) of the Kit protein, combined with the insertion of a cysteine (C) and a valine (V) at the same site (PMID: 12879016). V559_V560delinsS has not been characterized, but is predicted to lead to a gain of Kit protein function based on the effect of similar Kit exon 11 mutations (PMID: 9438854, PMID: 15365079).
Y568_T574del deletion gain of function - predicted KIT Y568_T574del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 568 to 574 (PMID: 16226710). Y568_T574del has not been characterized, however similar Kit exon 11 deletions are activating, thus Y568_T574del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
Y570H missense unknown KIT Y570H lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y570H has been identified in sequencing studies (PMID: 21642685) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2020).
Y570_L576del deletion gain of function - predicted KIT Y570_L576del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 570 to 576 (PMID: 16226710). Y570_L576del has not been characterized, however similar Kit exon 11 deletions are activating, thus Y570_L576del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
Y578C missense gain of function - predicted KIT Y578C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y578C results in constitutive phosphorylation of Kit in cell culture in one study (PMID: 23567324) and therefore, is predicted to lead to a gain of Kit protein function.
Y578_D579del deletion gain of function - predicted KIT Y578_D579del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 578 to 579 (UniProt.org). Y578_D579del has not been characterized, however similar Kit exon 11 deletions are activating, thus Y578_D579del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
Y672C missense unknown KIT Y672C lies within the protein kinase domain of the Kit protein (UniProt.org). Y672C is associated with drug resistance when in the context of an activating KIT mutation (PMID: 31270078), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown. Y
Y823C missense unknown KIT Y823C lies within the protein kinase domain of the Kit protein (UniProt.org). Y823C has been identified in sequencing studies (PMID: 14695343), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
Y823D missense gain of function KIT Y823D lies within the protein kinase domain of the Kit protein (UniProt.org). Y823D confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit in cultured cells (PMID: 14695343, PMID: 20633291).
Y823H missense unknown KIT Y823H lies within the protein kinase domain of the Kit protein (UniProt.org). Y823H has been identified in sequencing studies (PMID: 23014346), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).
Y823N missense unknown KIT Y823N lies within the protein kinase domain of the Kit protein (UniProt.org). Y823N has been identified in the scientific literature (PMID: 16741525), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2020).