KIT L576del - Gene Variant Detail

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Gene KIT
Variant L576del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT L576del results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 576 (PMID: 9797363). L576del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT L576del

KIT mutant KIT exon11 KIT exon 11 del KIT L576del

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Transcript NM_000222.3
gDNA chr4:g.54727495_54727497delTTC
cDNA c.1727_1729delTTC
Protein p.L576delL
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.