KIT C443S - Gene Variant Detail

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Gene KIT
Variant C443S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT C443S lies within Ig-like C2-type domain 5 of the Kit protein (UniProt.org). C443S has been identified in the scientific literature (PMID: 25003536), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon8 KIT C443S

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Transcript NM_000222.3
gDNA chr4:g.54723679T>A
cDNA c.1327T>A
Protein p.C443S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54723679T>A c.1327T>A p.C443S RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54723679T>A c.1327T>A p.C443S RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54723679T>A c.1327T>A p.C443S RefSeq GRCh38/hg38
XM_017008178 chr4:g.54723679T>A c.1327T>A p.C443S RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54723679T>A c.1327T>A p.C443S RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54723679T>A c.1327T>A p.C443S RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54723679T>A c.1327T>A p.C443S RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54723679T>A c.1327T>A p.C443S RefSeq GRCh38/hg38
NM_001093772 chr4:g.54723679T>A c.1327T>A p.C443S RefSeq GRCh38/hg38
XM_017008180 chr4:g.54723679T>A c.1327T>A p.C443S RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54723679T>A c.1327T>A p.C443S RefSeq GRCh38/hg38
NM_000222 chr4:g.54723679T>A c.1327T>A p.C443S RefSeq 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT C443S mucosal melanoma sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with mucosal melanoma harboring KIT C443S demonstrated a substantial response to Gleevec (imatinib) in the first two weeks and then developed progression at 15 weeks (PMID: 25003536). 25003536