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Gene | BRAF |
Variant | G464R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF G464R (also reported as G463R) lies within the protein kinase domain of the Braf protein (UniProt.org). G464R results in increased Braf kinase activity, increased downstream Erk signaling (PMID: 15046639), and induces cell proliferation and cell viability in culture (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF G464R BRAF mutant BRAF G464X BRAF G464R |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781618C>T |
cDNA | c.1390G>A |
Protein | p.G464R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333 | chr7:g.140781618C>T | c.1390G>A | p.G464R | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781618C>T | c.1390G>A | p.G464R | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140781618C>T | c.1390G>A | p.G464R | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781618C>T | c.1390G>A | p.G464R | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781618C>T | c.1390G>A | p.G464R | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781618C>T | c.1390G>A | p.G464R | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781618C>T | c.1390G>A | p.G464R | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781618C>T | c.1390G>A | p.G464R | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781618C>T | c.1390G>A | p.G464R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF G464R | Advanced Solid Tumor | resistant | Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, Zelboraf (vemurafenib) did not inhibit MEK and ERK activation in transformed cells over expressing the constitutively dimerized BRAF G464R (PMID: 26343582). | 26343582 |