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| Gene | BRAF |
| Variant | T599_V600insETT |
| Impact List | insertion |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | BRAF T599_V600insETT results in the insertion of 3 amino acids in the protein kinase domain of the Braf protein between amino acids 599 and 600 (UniProt.org). BRAF T599_V600insETT has not been characterized however, other insertions between T599 and V600 are activating (PMID: 16501605, PMID: 17297294, PMID: 21190184), and therefore, T599_V600insETT is predicted to lead to a gain of Braf protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF act mut BRAF T599_V600insETT |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753340_140753341insTGTCTCTGT |
| cDNA | c.1798_1799insAGACAACAG |
| Protein | p.T599_V600insETT |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378474.1 | chr7:g.140753340_140753341insTGTCTCTGT | c.1798_1799insAGACAACAG | p.T599_V600insETT | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753340_140753341insTGTCTCTGT | c.1798_1799insAGACAACAG | p.T599_V600insETT | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753340_140753341insTGTCTCTGT | c.1798_1799insAGACAACAG | p.T599_V600insETT | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753340_140753341insTGTCTCTGT | c.1798_1799insAGACAACAG | p.T599_V600insETT | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753340_140753341insTGTCTCTGT | c.1798_1799insAGACAACAG | p.T599_V600insETT | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753340_140753341insTGTCTCTGT | c.1798_1799insAGACAACAG | p.T599_V600insETT | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140753340_140753341insTGTCTCTGT | c.1798_1799insAGACAACAG | p.T599_V600insETT | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753340_140753341insTGTCTCTGT | c.1798_1799insAGACAACAG | p.T599_V600insETT | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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