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Gene | BRAF |
Variant | S467A |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF S467A lies within the protein kinase domain of the Braf protein (UniProt.org). S467A confers a gain of function to the Braf protein as demonstrated by increased kinase activity and activation of downstream Mek signaling (PMID: 23680146, PMID: 16439621). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF S467A BRAF mutant BRAF S467X BRAF S467A |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781609A>C |
cDNA | c.1399T>G |
Protein | p.S467A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333 | chr7:g.140781609A>C | c.1399T>G | p.S467A | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781609A>C | c.1399T>G | p.S467A | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781609A>C | c.1399T>G | p.S467A | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781609A>C | c.1399T>G | p.S467A | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781609A>C | c.1399T>G | p.S467A | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140781609A>C | c.1399T>G | p.S467A | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781609A>C | c.1399T>G | p.S467A | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781609A>C | c.1399T>G | p.S467A | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781609A>C | c.1399T>G | p.S467A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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