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Gene | BRAF |
Variant | G464V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF G464V (also reported as G463V) lies within the protein kinase domain of the Braf protein (UniProt.org). G464V results in increased Braf kinase activity and increased downstream Mek and Erk activation (PMID: 12068308, PMID: 26343582), and in one of two cell lines, increased cell proliferation and viability compared to wild-type Braf in culture (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF G464V BRAF mutant BRAF G464X BRAF G464V |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781617C>A |
cDNA | c.1391G>T |
Protein | p.G464V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333.6 | chr7:g.140781617C>A | c.1391G>T | p.G464V | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781617C>A | c.1391G>T | p.G464V | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781617C>A | c.1391G>T | p.G464V | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781617C>A | c.1391G>T | p.G464V | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140781617C>A | c.1391G>T | p.G464V | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781617C>A | c.1391G>T | p.G464V | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140781617C>A | c.1391G>T | p.G464V | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781617C>A | c.1391G>T | p.G464V | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781617C>A | c.1391G>T | p.G464V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF G464V | gain of function | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor |