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Gene KIT
Variant D816I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D816I lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). D816I results in constitutive phosphorylation of Kit, increased phosphorylation of Gsk3beta, activation of Stat pathways, and is transforming in cell culture (PMID: 19865100, PMID: 20484085).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT D816I

KIT mutant KIT exon17 KIT D816X KIT D816I

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Transcript NM_000222.3
gDNA chr4:g.54733154_54733155delGAinsAT
cDNA c.2446_2447delGAinsAT
Protein p.D816I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54733154_54733155delGAinsAT c.2446_2447delGAinsAT p.D816I RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733154_54733155delGAinsAT c.2446_2447delGAinsAT p.D816I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733154_54733155delGAinsAT c.2446_2447delGAinsAT p.D816I RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733154_54733155delGAinsAT c.2446_2447delGAinsAT p.D816I RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733166_54733167delGAinsAT c.2446_2447delGAinsAT p.D816I RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54733166_54733167delGAinsAT c.2446_2447delGAinsAT p.D816I RefSeq GRCh38/hg38
XM_017008179 chr4:g.54733166_54733167delGAinsAT c.2446_2447delGAinsAT p.D816I RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733154_54733155delGAinsAT c.2446_2447delGAinsAT p.D816I RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733166_54733167delGAinsAT c.2446_2447delGAinsAT p.D816I RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733166_54733167delGAinsAT c.2446_2447delGAinsAT p.D816I RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733166_54733167delGAinsAT c.2446_2447delGAinsAT p.D816I RefSeq GRCh38/hg38
NM_000222 chr4:g.54733154_54733155delGAinsAT c.2446_2447delGAinsAT p.D816I RefSeq GRCh38/hg38

Filtering

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  • 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
KIT D816I gain of function KIT Inhibitor Avapritinib