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KIT S501_A502insSAY - Gene Variant Detail

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Gene KIT
Variant S501_A502insSAY
Impact List insertion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT S501_A502insSAY results in an insertion of three amino acids in the Ig-like C2-type 5 domain (exon 9) of the Kit protein between amino acids 501 and 502 (UniProt.org). S501_A502insSAY has not been characterized, however similar Kit exon 9 mutations are activating (PMID: 22324351), 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 S501_A502insSAY

KIT mutant KIT exon9 KIT exon 9 ins KIT S501_A502insSAY

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Transcript NM_000222.3
gDNA chr4:g.54726013_54726014insAGCGCATAT
cDNA c.1503_1504insAGCGCATAT
Protein p.S501_A502insSAY
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
  • 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.