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KIT D816Y - Gene Variant Detail

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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
Category Variants Paths

KIT mutant KIT act mut KIT D816Y

KIT mutant KIT exon17 KIT D816X KIT D816Y

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Transcript NM_000222.3
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
NM_001093772.1 chr4:g.54733166G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733166G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733154G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733154G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733166G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733154G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
NM_000222 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_001385290.1 chr4:g.54733154G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733166G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
NM_000222.2 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT D816Y mast cell neoplasm predicted - sensitive Ripretinib Preclinical Actionable In a preclinical study, Qinlock (ripretinib) inhibited proliferation of mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) in culture, and resulted in tumor growth inhibition in allograft models (PMID: 31085175). 31085175
KIT D816Y mast cell neoplasm predicted - sensitive Avapritinib Preclinical Actionable In a preclinical study, Ayvakit (avapritinib) 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 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 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
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 predicted - resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) were resistant to Gleevec (imatinib) in culture (PMID: 31085175). 31085175
KIT D816Y mast cell neoplasm decreased response Sunitinib Preclinical - Cell culture Actionable In a preclinical study, mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) demonstrated reduced response to growth inhibition by Sutent (sunitinib) compared to GIST cells harboring KIT exon 11 deletion in culture (PMID: 31085175). 31085175
KIT D816Y mast cell neoplasm predicted - resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) were resistant to Stivarga (regorafenib) in culture (PMID: 31085175). 31085175
KIT D816Y mast cell neoplasm predicted - sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited proliferation of mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) in culture (PMID: 31085175). 31085175