Gene Variant Detail

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Gene KIT
Variant K642Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT K642Q lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). K642Q has been identified in sequencing studies (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 exon13 KIT K642Q

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Transcript NM_000222.2
gDNA chr4:g.54728055A>C
cDNA c.1924A>C
Protein p.K642Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54728055A>C c.1924A>C p.K642Q RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54728055A>C c.1924A>C p.K642Q RefSeq GRCh38/hg38
XM_017008178 chr4:g.54728055A>C c.1924A>C p.K642Q RefSeq GRCh38/hg38
NM_000222 chr4:g.54728055A>C c.1924A>C p.K642Q 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