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| Gene | BRAF |
| Variant | R558Q |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | BRAF R558Q lies within the protein kinase domain of the Braf protein (UniProt.org). R558Q results in moderate activation of Erk pathway signaling in a dimer and Ras-dependent manner in culture (PMID: 31515458), 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 R558Q |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140776933C>T |
| cDNA | c.1673G>A |
| Protein | p.R558Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001354609.1 | chr7:g.140776933C>T | c.1673G>A | p.R558Q | RefSeq | GRCh38/hg38 |
| XM_047420769.1 | chr7:g.140776933C>T | c.1673G>A | p.R558Q | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140776933C>T | c.1673G>A | p.R558Q | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140776933C>T | c.1673G>A | p.R558Q | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140776933C>T | c.1673G>A | p.R558Q | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140776933C>T | c.1673G>A | p.R558Q | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140776933C>T | c.1673G>A | p.R558Q | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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