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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_004333.6
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_004333.6 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_001354609.2 chr7:g.140778006T>C c.1502A>G p.E501G RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778006T>C c.1502A>G p.E501G RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778006T>C c.1502A>G p.E501G RefSeq GRCh38/hg38
NM_004333 chr7:g.140778006T>C c.1502A>G p.E501G RefSeq GRCh38/hg38
NM_001378468.1 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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  • 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References