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Gene | BRAF |
Variant | V600_W604delinsR |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF V600_W604delinsR results in the deletion of five amino acids in the protein kinase domain of the Braf protein from amino acids 600 to 604, combined with the insertion of an arginine (R) at the same site (UniProt.org). V600_W604delinsR has been identified in the scientific literature (PMID: 38766698, PMID: 30442523), but has not been biochemically characterized, and therefore, its effect on Braf protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF V600_W604delinsR |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753323_140753337delinsCCT |
cDNA | c.1798_1812delinsAGG |
Protein | p.V600_W604delinsR |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378468.1 | chr7:g.140753323_140753337delinsCCT | c.1798_1812delinsAGG | p.V600_W604delinsR | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753323_140753337delinsCCT | c.1798_1812delinsAGG | p.V600_W604delinsR | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753323_140753337delinsCCT | c.1798_1812delinsAGG | p.V600_W604delinsR | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753323_140753337delinsCCT | c.1798_1812delinsAGG | p.V600_W604delinsR | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF V600_W604delinsR | lung adenocarcinoma | predicted - sensitive | Dabrafenib + Trametinib | Case Reports/Case Series | Actionable | In a clinical case study, treatment with the combination of Tafinlar (dabrafenib) and Mekinist (trametinib) resulted in a partial response after 48 days, shrinkage of metastatic lesions, and decreased pleural effusion in a patient with advanced lung adenocarcinoma harboring BRAF V600_W604delinsR (PMID: 38766698). | 38766698 |