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
NM_001385292.1 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
XM_005265741.1 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
XM_017008179.1 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_000222 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_000222.2 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
XM_005265741 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_001093772.1 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

Filtering

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  • Use simple literal full or partial string matches
  • 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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Sorting

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Molecular Profile Protein Effect Treatment Approaches
KIT D816V gain of function Avapritinib Dasatinib
KIT V560G KIT D816V
KIT D816V NRAS Q61R
KIT T670I KIT D816V
KIT N655K KIT D816V
KIT Y672C KIT D816V
KIT D677N KIT D816V
KIT V654A KIT D816V
KIT T670V KIT D816V
KIT T670A KIT D816V