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| Gene | BRAF |
| Variant | V600X |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRAF V600X indicates any BRAF missense mutation that results in replacement of the valine (V) at amino acid 600 by a different amino acid. BRAF V600 mutations are hotspot mutations that often result in increased Braf kinase activity (PMID: 15035987). |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF V600X |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753335_140753337 |
| cDNA | c.1798_1800 |
| Protein | p.V600 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378468.1 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BRAF V600X | unknown | BRAF Inhibitor MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor RAF Inhibitor (Pan) |
| BRAF V600X PIK3CA H1047X | ||
| BRAF V600X MAP2K1 V60E NRAS T58I NRAS Q61R | ||
| BRAF V600X BRAF amp NRAS Q61K | ||
| BRAF V600X PTEN H93D | ||
| BRAF V600X PTEN neg | ||
| BRAF V600X PIK3CA H1047R PTEN Y68fs | ||
| BRAF V600X NRAS mut |