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Gene KIT
Variant G565*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions KIT G565* results in a premature truncation of the Kit protein at amino acid 565 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), G565* is predicted to lead to a loss of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT G565*

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Transcript NM_000222.3
gDNA chr4:g.54727461G>T
cDNA c.1693G>T
Protein p.G565*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727461G>T c.1693G>T p.G565* RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727461G>T c.1693G>T p.G565* RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727461G>T c.1693G>T p.G565* RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727461G>T c.1693G>T p.G565* RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727461G>T c.1693G>T p.G565* RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727461G>T c.1693G>T p.G565* 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")

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