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KIT V560del - Gene Variant Detail

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Gene KIT
Variant V560del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions KIT V560del (also reported as V559del) results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 560 (PMID: 12879016). V560del confers a gain of function to Kit, resulting in constitutive, ligand independent phosphorylation of Kit and activation of Akt in cell culture (PMID: 15236194, PMID: 22282465), and transformation of cultured cells (PMID: 19861435).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT V560del

KIT mutant KIT exon11 KIT exon 11 del KIT V560del

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Transcript NM_000222.3
gDNA chr4:g.54727447_54727449delTTG
cDNA c.1679_1681delTTG
Protein p.V560delV
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")

Sorting

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