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Gene | BRAF |
Variant | T599_V600insEAT |
Impact List | insertion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF T599_V600insEAT results in the insertion of three amino acids in the protein kinase domain of the Braf protein between amino acids 599 and 600 (UniProt.org). T599_V600insEAT has not been characterized however, other insertions between T599 and V600 are activating (PMID: 16501605, PMID: 17297294, PMID: 21190184), and therefore, T599_V600insEAT is predicted to lead to a gain of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF T599_V600insEAT |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753340_140753341insTGCCTCTGT |
cDNA | c.1798_1799insAGGCAACAG |
Protein | p.T599_V600insEAT |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333 | chr7:g.140753340_140753341insTGCCTCTGT | c.1798_1799insAGGCAACAG | p.T599_V600insEAT | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753340_140753341insTGCCTCTGT | c.1798_1799insAGGCAACAG | p.T599_V600insEAT | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753340_140753341insTGCCTCTGT | c.1798_1799insAGGCAACAG | p.T599_V600insEAT | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753340_140753341insTGCCTCTGT | c.1798_1799insAGGCAACAG | p.T599_V600insEAT | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753340_140753341insTGCCTCTGT | c.1798_1799insAGGCAACAG | p.T599_V600insEAT | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753340_140753341insTGCCTCTGT | c.1798_1799insAGGCAACAG | p.T599_V600insEAT | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753340_140753341insTGCCTCTGT | c.1798_1799insAGGCAACAG | p.T599_V600insEAT | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753340_140753341insTGCCTCTGT | c.1798_1799insAGGCAACAG | p.T599_V600insEAT | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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