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Gene | BRAF |
Variant | G478C |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRAF G478C lies within the protein kinase domain of the Braf protein (UniProt.org). G478C results in loss of Braf kinase activity in cell culture (PMID: 22926515), and therefore, is predicted to lead to a loss of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF inact mut BRAF G478C |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781576C>A |
cDNA | c.1432G>T |
Protein | p.G478C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005250045 | chr7:g.140781576C>A | c.1432G>T | p.G478C | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781576C>A | c.1432G>T | p.G478C | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781576C>A | c.1432G>T | p.G478C | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140781576C>A | c.1432G>T | p.G478C | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781576C>A | c.1432G>T | p.G478C | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781576C>A | c.1432G>T | p.G478C | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781576C>A | c.1432G>T | p.G478C | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781576C>A | c.1432G>T | p.G478C | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781576C>A | c.1432G>T | p.G478C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF G478C | loss of function - predicted |