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| Gene | BRAF |
| Variant | G474R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRAF G474R lies within the protein kinase domain of the Braf protein (UniProt.org). G474R results in a loss of downstream phosphorylation in culture, loss of kinase activity in in vitro analyses, and does not lead to downstream phosphorylation when co-expressed with Craf but does lead to TSH-induced proliferation in culture (PMID: 18697864), and therefore, its effect on Braf protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF G474R |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140781588C>T |
| cDNA | c.1420G>A |
| Protein | p.G474R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378474.1 | chr7:g.140781588C>T | c.1420G>A | p.G474R | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140781588C>T | c.1420G>A | p.G474R | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140781588C>T | c.1420G>A | p.G474R | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140781588C>T | c.1420G>A | p.G474R | RefSeq | GRCh38/hg38 |
| XM_047420769.1 | chr7:g.140781588C>T | c.1420G>A | p.G474R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BRAF G474R | unknown |