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Gene KIT
Variant R686C
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions KIT R686C lies within the protein kinase domain of the Kit protein (UniProt.org). R686C results in decreased SCF-induced Kit activation in culture (PMID: 23020152), and therefore, is predicted to lead to a loss of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon14 KIT R686C

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Transcript NM_000222.3
gDNA chr4:g.54729400C>T
cDNA c.2056C>T
Protein p.R686C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178.1 chr4:g.54729400C>T c.2056C>T p.R686C RefSeq GRCh38/hg38
NM_000222 chr4:g.54729400C>T c.2056C>T p.R686C RefSeq GRCh38/hg38
XM_017008178 chr4:g.54729400C>T c.2056C>T p.R686C RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54729400C>T c.2056C>T p.R686C RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54729400C>T c.2056C>T p.R686C RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54729400C>T c.2056C>T p.R686C 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