Gene Variant Detail

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Gene KIT
Variant D572A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT D572A lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). D572A results in ligand-independent phosphorylation of Kit in cell culture (PMID: 19865100), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT D572A

KIT mutant KIT exon11 KIT D572A

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Transcript NM_000222.3
gDNA chr4:g.54727483A>C
cDNA c.1715A>C
Protein p.D572A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727483A>C c.1715A>C p.D572A RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727483A>C c.1715A>C p.D572A RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727483A>C c.1715A>C p.D572A RefSeq GRCh38/hg38
NM_000222 chr4:g.54727483A>C c.1715A>C p.D572A RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727483A>C c.1715A>C p.D572A RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727483A>C c.1715A>C p.D572A 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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