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Gene | BRAF |
Variant | V600_R603del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF V600_R603del results in the deletion of four amino acids of the Braf protein from amino acids 600 to 603 (UniProt.org). V600_R603del confers a gain of function to the Braf protein as demonstrated by increased downstream phosphorylation in culture, increased kinase activity in in vitro analyses, and induces TSH-independent proliferation in culture (PMID: 18697864). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF V600_R603del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753327_140753338del12 |
cDNA | c.1798_1809del12 |
Protein | p.V600_R603del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378468.1 | chr7:g.140753327_140753338del12 | c.1798_1809del12 | p.V600_R603del | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753327_140753338del12 | c.1798_1809del12 | p.V600_R603del | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753327_140753338del12 | c.1798_1809del12 | p.V600_R603del | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753327_140753338del12 | c.1798_1809del12 | p.V600_R603del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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