Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | BRAF |
| Variant | L597X |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRAF L597X indicates any BRAF missense mutation that results in replacement of the leucine (L) at amino acid 597 by a different amino acid. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF L597X |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753344_140753346 |
| cDNA | c.1789_1791 |
| Protein | p.L597 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004333.5 | chr7:g.140753344_140753346 | c.1789_1791 | p.L597 | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753344_140753346 | c.1789_1791 | p.L597 | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140753344_140753346 | c.1789_1791 | p.L597 | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753344_140753346 | c.1789_1791 | p.L597 | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753344_140753346 | c.1789_1791 | p.L597 | RefSeq | GRCh38/hg38 |
| NM_001378473.1 | chr7:g.140749332_140749334 | c.1789_1791 | p.L597 | RefSeq | GRCh38/hg38 |
| NM_001378472.1 | chr7:g.140749332_140749334 | c.1789_1791 | p.L597 | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753344_140753346 | c.1789_1791 | p.L597 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| BRAF L597X | melanoma | sensitive | Trametinib | Guideline | Actionable | Mekinist (trametinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with BRAF L597 mutations (NCCN.org). | detail... |