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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_000222 chr4:g.54733154G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
NM_000222.3 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
NM_001093772 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_001385290.1 chr4:g.54733154G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733166G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733166G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733166G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
XM_017008179 chr4:g.54733166G>T c.2446G>T p.D816Y RefSeq GRCh38/hg38
NM_001093772.1 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries