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 act mut KIT K642E

KIT mutant KIT exon13 KIT K642E

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Transcript NM_000222.3
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_000222.3 chr4:g.54728055A>G c.1924A>G p.K642E RefSeq GRCh38/hg38
NM_000222.2 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
NM_000222 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
NM_001385285.1 chr4:g.54728055A>G c.1924A>G p.K642E RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT K642E KIT C809G KIT N822H gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, an acquired KIT C809G mutation was identified in a gastrointestinal stromal tumor (GIST) patient harboring KIT K642E and KIT N822H at the time of progression on Gleevec (imatinib) (PMID: 16954519). 16954519
KIT K642E KIT N822K gastrointestinal stromal tumor sensitive AZD3229 Preclinical - Pdx Actionable In a preclinical study, AZD3229 inhibited Kit signaling and tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT K642E and KIT N822K (PMID: 32350132). 32350132
KIT K642E KIT N822K gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Pdx Actionable In a preclinical study, Stivarga (regorafenib) suppressed tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT K642E and KIT N822K, but was less potent in comparison to treatment with AZD3229 (PMID: 32350132). 32350132
KIT K642E KIT N822Y gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT N822Y progressed on sixth-line treatment with Qinlock (ripretinib) after 7.3 months and was found to have acquired KIT K642E in the metastatic lesion (PMID: 38408285). 38408285