Gene Variant Detail

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Gene KIT
Variant W557R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT W557R lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 15790786). W557R has been identified in the scientific literature (PMID: 15869870, PMID: 12824871, PMID: 26848617) but has not been biochemically characterized and therefore, its effect on Kit protein funciton is unknown (PubMed, Oct 2022).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT W557R

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Transcript NM_000222.2
gDNA chr4:g.54727437T>A
cDNA c.1669T>A
Protein p.W557R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727437T>A c.1669T>A p.W557R RefSeq GRCh38/hg38
NM_000222 chr4:g.54727437T>A c.1669T>A p.W557R RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727437T>A c.1669T>A p.W557R RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727437T>A c.1669T>A p.W557R 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"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT W557R melanoma predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient harboring KIT W557R demonstrating a partial response and progression free survival of 35.4 months and overall survival of 35.4 months (PMID: 28327988). 28327988