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Gene | BRAF |
Variant | G464E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF G464E (also reported as G463E) lies within the protein kinase domain of the Braf protein (UniProt.org). G464E results in increased Braf kinase activity and activation of MEK and ERK (PMID: 15035987, PMID: 23680146), and in one of two cell lines, increased cell proliferation and cell viability compared to wild-type Braf in culture (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF G464E BRAF mutant BRAF G464X BRAF G464E |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781617C>T |
cDNA | c.1391G>A |
Protein | p.G464E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047420769.1 | chr7:g.140781617C>T | c.1391G>A | p.G464E | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781617C>T | c.1391G>A | p.G464E | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781617C>T | c.1391G>A | p.G464E | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781617C>T | c.1391G>A | p.G464E | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781617C>T | c.1391G>A | p.G464E | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781617C>T | c.1391G>A | p.G464E | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140781617C>T | c.1391G>A | p.G464E | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140781617C>T | c.1391G>A | p.G464E | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781617C>T | c.1391G>A | p.G464E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF G464E | gain of function | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor |