Gene Variant Detail

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Gene KIT
Variant D816F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D816F lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). D816F results in constitutive phosphorylation of Kit and activation of Stat3, Mapk, and Akt signaling in cultured cells (PMID: 9990072, PMID: 16397263), and also confers resistance to imatinib in culture (PMID: 16397263).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT D816F

KIT mutant KIT exon17 KIT D816X KIT D816F

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Transcript NM_000222.3
gDNA chr4:g.54733154_54733155delGAinsTT
cDNA c.2446_2447delGAinsTT
Protein p.D816F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385290.1 chr4:g.54733154_54733155delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733154_54733155delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733154_54733155delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733166_54733167delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733166_54733167delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
NM_000222 chr4:g.54733154_54733155delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
XM_017008179 chr4:g.54733166_54733167delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733166_54733167delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54733166_54733167delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733154_54733155delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733154_54733155delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733166_54733167delGAinsTT c.2446_2447delGAinsTT p.D816F RefSeq GRCh38/hg38

Filtering

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Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References