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Gene KIT
Variant D816H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D816H lies within the tyrosine kinase domain region 2 (exon 17) of the Kit protein (PMID: 19164557). D816H results in increased kinase activity, constitutive Kit phosphorylation, activation of Stat3 signaling, and transformation of cultured cells (PMID: 10362788, PMID: 11494148), and confers resistance to some Kit inhibitors (PMID: 25239608).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT D816H

KIT mutant KIT exon17 KIT D816X KIT D816H

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Transcript NM_000222.3
gDNA chr4:g.54733154G>C
cDNA c.2446G>C
Protein p.D816H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54733154G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733166G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
NM_000222 chr4:g.54733154G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733154G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733166G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733166G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54733166G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733154G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733154G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
XM_017008179 chr4:g.54733166G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733154G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733166G>C c.2446G>C p.D816H 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 D816H gain of function Avapritinib Dasatinib
KIT W557_K558del KIT D816H
KIT V560D KIT D816H
KIT A502_Y503dup KIT D816H
KIT exon 11 del KIT D816H
KIT W557_K558del KIT V654G KIT D816H