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KIT T417_D419delinsY - Gene Variant Detail

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Gene KIT
Variant T417_D419delinsY
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions KIT T417_D419delinsY results in the deletion of three amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 417 to 419, combined with the insertion of a tyrosine (Y) at the same site (UniProt.org). T417_D419delinsY results in constitutive phosphorylation of Kit (PMID: 16015387), activation of Akt and Stat pathways, and is transforming in culture (PMID: 20484085).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT T417_D419delinsY

KIT mutant KIT exon8 KIT T417_D419delinsY

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Transcript NM_000222.3
gDNA chr4:g.54723601_54723609delinsTAT
cDNA c.1249_1257delinsTAT
Protein p.T417_D419delinsY
Source Database RefSeq
Genome Build GRCh38/hg38

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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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