KIT V559_V560del - Gene Variant Detail

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Gene KIT
Variant V559_V560del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions KIT V559_V560del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 560 (UniProt.org). V559_V560del confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit, is transforming in cell culture, and promotes tumor formation in mice (PMID: 9797363).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT V559_V560del

KIT mutant KIT exon11 KIT exon 11 del KIT V559_V560del

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Transcript NM_000222.3
gDNA chr4:g.54727444_54727449delTTGTTG
cDNA c.1676_1681delTTGTTG
Protein p.V559_V560delVV
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.