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Gene | BRAF |
Variant | W604C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF W604C lies within the protein kinase domain of the Braf protein (UniProt.org). W604C has been identified in the scientific literature (PMID: 30926357, PMID: 26110571, PMID: 35050727), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF W604C |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753323C>A |
cDNA | c.1812G>T |
Protein | p.W604C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354609.1 | chr7:g.140753323C>A | c.1812G>T | p.W604C | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753323C>A | c.1812G>T | p.W604C | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753323C>A | c.1812G>T | p.W604C | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753323C>A | c.1812G>T | p.W604C | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753323C>A | c.1812G>T | p.W604C | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753323C>A | c.1812G>T | p.W604C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF G469A BRAF W604C | lung adenocarcinoma | predicted - sensitive | Dabrafenib + Trametinib | Case Reports/Case Series | Actionable | In a clinical case study, Tafinlar (dabrafenib) and Mekinist (trametinib) combination treatment resulted in stable disease indicated by decreased tumor density and disappearance of some metastatic lesions lasting 15 months in a patient with lung adenocarcinoma harboring BRAF G469A and W604C (PMID: 30926357). | 30926357 |