Gene Variant Detail

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, Mar 2019).
Associated Drug Resistance

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Transcript NM_000222
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 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 Protein Effect Treatment Approaches
KIT W557C unknown KIT Inhibitor
KIT K558_V560del KIT W557C
KIT W557C KIT Y578C
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT K558_V560del KIT W557C gastrointestinal stromal tumor predicted - sensitive Ponatinib Case Reports/Case Series Actionable In a clinical study, a GIST patient harboring KIT K558_V560del and KIT W557C, resistant to Gleevec (imatinib), Sutent (sunitinib), and Stivarga (regorafenib), demonstrated sensitivity when treated with Iclusig (ponatinib), which resulted in a radiologic response and stabilization for six months (PMID: 25239608). 25239608
KIT W557C KIT Y578C Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib mesylate) inhibited Kit phosphorylation efficiently in transformed human cells over expressing both KIT W557C and KIT Y578C in culture (PMID: 23567324). 23567324