Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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

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.

Transcript NM_000222.3
gDNA chr4:g.54726013_54726014insAGCGCATAT
cDNA c.1503_1504insAGCGCATAT
Protein p.S501_A502insSAY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_001093772 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
XM_017008180 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
XM_017008178 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq GRCh38/hg38
NM_000222 chr4:g.54726013_54726014insAGCGCATAT c.1503_1504insAGCGCATAT p.S501_A502insSAY RefSeq 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries