Gene Variant Detail

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Gene KIT
Variant W557C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT W557C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). W557C has been identified in the scientific literature (PMID: 28327988), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jan 2023).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT W557C

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Transcript NM_000222.2
gDNA chr4:g.54727439G>T
cDNA c.1671G>T
Protein p.W557C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727439G>T c.1671G>T p.W557C RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727439G>T c.1671G>T p.W557C RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727439G>T c.1671G>T p.W557C RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727439G>T c.1671G>T p.W557C RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References