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KIT D816Y - Gene Variant Detail

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Gene KIT
Variant D816Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D816Y lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 21640708). D816Y results in constitutive phosphorylation of Kit, activation of Akt and Mapk pathways in cultured cells (PMID: 21640708, PMID: 16397263), and confers resistance to imatinib in culture (PMID: 16397263).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT D816Y

KIT mutant KIT exon17 KIT D816X KIT D816Y

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Transcript NM_000222.3
gDNA chr4:g.54733154G>T
cDNA c.2446G>T
Protein p.D816Y
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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