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Gene BRAF
Variant K499E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF K499E lies within the protein kinase domain of the Braf protein (UniProt.org). K499E confers a gain of function to the Braf protein as demonstrated by increased Braf kinase activity and downstream signaling, activation of ELK-dependent signaling in reporter assays, and foci formation in cultured cells (PMID: 16474404, PMID: 18413255, PMID: 26065894).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF K499E

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Transcript NM_004333.6
gDNA chr7:g.140778013T>C
cDNA c.1495A>G
Protein p.K499E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_004333 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778013T>C c.1495A>G p.K499E 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