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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 |
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_001378474.1 | 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 |
NM_004333.5 | 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_001378468.1 | 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 |
XM_005250045 | 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_004333.6 | chr7:g.140778006T>C | c.1502A>G | p.E501G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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