Gene Variant Detail

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Gene KIT
Variant D677N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT D677N lies within the protein kinase domain of the Kit protein (UniProt.org). D677N is associated with drug resistance when in the context of an activating KIT mutation (PMID: 31270078), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2022).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT exon14 KIT D677N

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Transcript NM_000222.2
gDNA chr4:g.54729373G>A
cDNA c.2029G>A
Protein p.D677N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54729373G>A c.2029G>A p.D677N RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54729373G>A c.2029G>A p.D677N RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54729373G>A c.2029G>A p.D677N RefSeq GRCh38/hg38
NM_000222 chr4:g.54729373G>A c.2029G>A p.D677N 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