Gene Variant Detail

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Gene BRAF
Variant E451K
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF E451K does not lie within any known functional domains of the Braf protein (UniProt.org). E451K is predicted to lead to a gain of Braf protein function as indicated by intermediate increase of Erk phosphorylation in culture, and is associated with resistance to Raf inhibitors (PMID: 31158244).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF E451K

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Transcript NM_004333.5
gDNA chr7:g.140781657C>T
cDNA c.1351G>A
Protein p.E451K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140781657C>T c.1351G>A p.E451K RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781657C>T c.1351G>A p.E451K RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781657C>T c.1351G>A p.E451K RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781657C>T c.1351G>A p.E451K 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
BRAF E451K breast cancer predicted - resistant Dabrafenib Preclinical Actionable In a preclinical study, Tafinlar (dabrafenib) treatment resulted in increased Erk phosphorylation in breast cancer cells expressing BRAF E451K in culture (PMID: 31158244). 31158244