Gene Variant Detail

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Gene BRAF
Variant E501G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRAF E501G lies within the protein kinase domain of the Braf protein (UniProt.org). E501G confers a loss of function to the Braf protein as demonstrated by inability to activate downstream reporter assays, impaired kinase activity and presence in genetic diseases associated with Ras/Raf/Mek dysfunction (PMID: 26065894, PMID: 16474404, PMID: 16439621).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF E501G

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Transcript NM_004333.5
gDNA chr7:g.140778006T>C
cDNA c.1502A>G
Protein p.E501G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140778006T>C c.1502A>G p.E501G RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778006T>C c.1502A>G p.E501G RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778006T>C c.1502A>G p.E501G RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778006T>C c.1502A>G p.E501G RefSeq GRCh38/hg38

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  • 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