Gene Variant Detail

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Gene KIT
Variant K642E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions 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).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon13 KIT K642E

KIT mutant KIT act mut KIT K642E

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Transcript NM_000222.2
gDNA chr4:g.54728055A>G
cDNA c.1924A>G
Protein p.K642E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54728055A>G c.1924A>G p.K642E RefSeq GRCh38/hg38
NM_000222 chr4:g.54728055A>G c.1924A>G p.K642E RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54728055A>G c.1924A>G p.K642E RefSeq GRCh38/hg38
XM_017008178 chr4:g.54728055A>G c.1924A>G p.K642E RefSeq GRCh38/hg38

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  • 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 )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT K642E gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Stivarga (regorafenib) inhibited proliferation of gastrointestinal stromal tumor cells harboring KIT K642E in culture (PMID: 21170960). 21170960
KIT K642E gastrointestinal stromal tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line harboring KIT K642E demonstrated sensitivity to Iclusig (ponatinib) in culture (PMID: 25239608). 25239608
KIT K642E gastrointestinal stromal tumor sensitive Imatinib + Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) and Gleevec (imatinib) combination treatment demonstrated enhanced antiproliferative activity in gastrointestinal stromal tumor cells harboring KIT K642E in culture (PMID: 25673643). 25673643
KIT K642E vulvar melanoma predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in partial response in a patient with recurrent vulval melanoma harboring KIT K642E, with reduction of tumor mass by 35% at 12 weeks (PMID: 20372153). 20372153
KIT K642E melanoma predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient harboring KIT K642E demonstrating a partial response and a progression free survival of 5.8 months and overall survival of 18.6 months (PMID: 28327988). 28327988
KIT K642E gastrointestinal stromal tumor sensitive Axitinib Preclinical - Patient cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited phosphorylation of KIT and downstream signaling, reduced proliferation, and induced cell-cycle arrest in a cultured gastrointestinal stromal tumor (GIST) cell line harboring KIT K642E, and inhibited proliferation of primary GIST cells harboring KIT K642E in culture (PMID: 31205508). 31205508
KIT K642E gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Patient cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of a gastrointestinal stromal tumor (GIST) cell line and primary GIST patient-derived cells harboring KIT K642E in culture (PMID: 31205508). 31205508
KIT K642E gastrointestinal stromal tumor sensitive Nintedanib Preclinical - Cell line xenograft Actionable In a preclinical study, Ofev (nintedanib) decreased Kit phosphorylation and downstream signaling, induced cell-cycle arrest and apoptosis, and inhibited proliferation of a gastrointestinal stromal tumor cell line and patient-derived cells harboring KIT K642E in culture, and suppressed tumor growth in cell line xenograft models (PMID: 35194937). 35194937
KIT K642E gastrointestinal stromal tumor predicted - sensitive IDRX-42 Preclinical - Pdx Actionable In a preclinical study, IDRX-42 treatment inhibited mitosis and decreased tumor growth in a cell line xenograft model and a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT K642E (Cancer Res 2022;82(12_Suppl):Abstract nr 2666). detail...