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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_000222.2 chr4:g.54727439G>T c.1671G>T p.W557C RefSeq GRCh38/hg38
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
XM_017008178.1 chr4:g.54727439G>T c.1671G>T p.W557C RefSeq GRCh38/hg38

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT W557C KIT K558_V560del 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