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KIT R634W - Gene Variant Detail

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Gene KIT
Variant R634W
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT R634W lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). R634W confers a gain of function to the Kit protein as demonstrated by constitutive Kit phosphorylation, increased Stat3 and Stat5 phosphorylation, and is transforming in cell culture (PMID: 15790786).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT R634W

KIT mutant KIT exon13 KIT R634W

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Transcript NM_000222.3
gDNA chr4:g.54728031C>T
cDNA c.1900C>T
Protein p.R634W
Source Database RefSeq
Genome Build GRCh38/hg38

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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")

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