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Gene KIT
Variant D820A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT D820A lies within the protein kinase domain of the Kit protein (UniProt.org). D820A has been demonstrated to occur as a secondary drug resistance mutation (PMID: 16954519, PMID: 31363162), and results in reduced Kit protein expression and stability, abnormal cellular localization, but constitutive Kit phosphorylation in the absence of Pkc in cell culture (PMID: 27440273), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT D820A

KIT mutant KIT exon17 KIT D820A

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Transcript NM_000222.3
gDNA chr4:g.54733167A>C
cDNA c.2459A>C
Protein p.D820A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741 chr4:g.54733167A>C c.2459A>C p.D820A RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733167A>C c.2459A>C p.D820A RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733167A>C c.2459A>C p.D820A RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733167A>C c.2459A>C p.D820A RefSeq GRCh38/hg38
NM_000222 chr4:g.54733167A>C c.2459A>C p.D820A RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733167A>C c.2459A>C p.D820A RefSeq GRCh38/hg38

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

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