Gene Variant Detail

Gene KIT
Variant D816Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions 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).
Associated Drug Resistance Y

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Transcript NM_000222
gDNA chr4:g.54733154G>T
cDNA c.2446G>T
Protein p.D816Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741 chr4:g.54733154G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
XM_017008179 chr4:g.54733166G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
NM_000222 chr4:g.54733154G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733166G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38

Filtering

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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 Protein Effect Treatment Approaches
KIT D816Y gain of function KIT Inhibitor Avapritinib
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT D816Y Advanced Solid Tumor resistant Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816Y were resistant to treatment with Flumatinib in culture (PMID: 24205792). 24205792
KIT D816Y mast cell neoplasm sensitive DCC-2618 Preclinical - Cell culture Actionable In a preclinical study, DCC-2618 inhibited proliferation of a mouse mastocytosis cell line expressing KIT K816Y in culture (Cancer Res 2015;75(15 Suppl):Abstract nr 2690). detail...
KIT D816Y Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816Y were resistant to Gleevec (imatinib mesylate) in culture (PMID: 16397263). 16397263
KIT D816Y Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816Y were resistant to treatment with Gleevec (imatinib) in culture (PMID: 24205792). 24205792
KIT D816Y mast cell neoplasm sensitive Avapritinib Preclinical Actionable In a preclinical study, BLU-285 inhibited Kit phosphorylation and proliferation of murine mastocytoma cells harboring KIT D814Y (corresponding to human D816Y) in culture, and resulted in tumor regression in allograft animal models (PMID: 29093181). 29093181
KIT D816Y Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816Y were resistant to treatment with Sutent (sunitinib) in culture (PMID: 24205792). 24205792