KIT D816V
Gene Variant Detail

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Gene KIT
Variant D816V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D816V lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 19865100). D816V results in constitutive phosphorylation of Kit, activation of Stat5 signaling (PMID: 19865100, PMID: 18390729), induces mastocytosis and tumor formation in mice (PMID: 21148330) and confers resistance to Kit inhibitors (PMID: 22301675, PMID: 19164557).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT D816V

KIT mutant KIT exon17 KIT D816X KIT D816V

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Transcript NM_000222.3
gDNA chr4:g.54733155A>T
cDNA c.2447A>T
Protein p.D816V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741.1 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_000222 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
XM_017008179 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04910685 Phase II Elenestinib (HARBOR) Study to Evaluate Efficacy and Safety of BLU-263 Versus Placebo in Patients With Indolent Systemic Mastocytosis Recruiting USA | SWE | NOR | NLD | ITA | GBR | FRA | ESP | DEU | CHE | BEL | AUT | AUS 1