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KIT V559G - Gene Variant Detail

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Gene KIT
Variant V559G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT V559G lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). V559G results in constitutive phosphorylation of Kit in a patient sample (PMID: 15897563), and the corresponding mouse variant results in ligand-independent Kit phosphorylation and increased proliferation in cultured cells and increased tumor formation in mouse models (PMID: 8546206).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT V559G

KIT mutant KIT exon11 KIT V559X KIT V559G

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Transcript NM_000222.3
gDNA chr4:g.54727444T>G
cDNA c.1676T>G
Protein p.V559G
Source Database RefSeq
Genome Build 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 )
  • 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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