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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_004333.6 | chr7:g.140753344_140753346 | c.1789_1791 | p.L597 | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753344_140753346 | c.1789_1791 | p.L597 | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140749332_140749334 | 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_001354609.2 | 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_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... |