We’re improving your experience!

×

Starting April 21, you’ll be asked to log in or sign up for a free account after viewing 10 content pages each month.

Don’t worry—creating an account is quick and easy, and it comes with added benefits! Once logged in, you’ll not only continue accessing the content you already enjoy, but you’ll also unlock exclusive features like interactive donut plots for variant protein effects and variant impacts across the gene.

Stay tuned for these updates, and thank you for being part of our community!

KIT S501_A502dup - Gene Variant Detail

Request Content

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_A502dup
Impact List duplication
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT S501_A502dup (also referred to as A502_Y503insSA) indicates the insertion of two duplicate amino acids, serine (S)-501 through alanine (A)-502, in Ig-like C2-type domain 5 of the Kit protein (UniProt.org). S501_A502dup results in constitutive phosphorylation of Kit in primary and cultured cells (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_A502dup

KIT mutant KIT exon9 KIT exon 9 ins KIT S501_A502dup

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.54726011_54726016
cDNA c.1501_1506
Protein p.S501_A502
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.