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KIT D579del - Gene Variant Detail

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Gene KIT
Variant D579del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions KIT D579del results in a deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 579 (PMID: 9797363). D579del confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit, transformation of cultured cells and tumor formation in mice (PMID: 9797363).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT D579del

KIT mutant KIT exon11 KIT exon 11 del KIT D579del

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Transcript NM_000222.3
gDNA chr4:g.54727503_54727505delGAT
cDNA c.1735_1737delGAT
Protein p.D579delD
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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