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Gene | BRAF |
Variant | V600_W604delinsDG |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF V600_W604delinsDG results in the deletion of five amino acids in the protein kinase domain of the Braf protein from amino acids 488 to 493, combined with the insertion of an aspartic acid (D) and a glycine (G) at the same site (UniProt.org). V600_W604delinsDG results in increased pERK expression in patient samples (PMID: 39107839), but has not been fully biochemically characterized and therefore, its effect on Braf protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF V600_W604delinsDG |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753323_140753337delinsACCGTC |
cDNA | c.1798_1812delinsGACGGT |
Protein | p.V600_W604delinsDG |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378474.1 | chr7:g.140753323_140753337delinsACCGTC | c.1798_1812delinsGACGGT | p.V600_W604delinsDG | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753323_140753337delinsACCGTC | c.1798_1812delinsGACGGT | p.V600_W604delinsDG | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753323_140753337delinsACCGTC | c.1798_1812delinsGACGGT | p.V600_W604delinsDG | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753323_140753337delinsACCGTC | c.1798_1812delinsGACGGT | p.V600_W604delinsDG | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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