KIT E53K - Gene Variant Detail

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Gene KIT
Variant E53K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT E53K lies within Ig-like C2-type domain 1 of the Kit protein (UniProt.org). E53K has been identified in sequencing studies (PMID: 17710669), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT E53K

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Transcript NM_000222.3
gDNA chr4:g.54695601G>A
cDNA c.157G>A
Protein p.E53K
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.