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Gene | BRAF |
Variant | G596fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRAF G596fs results in a change in the amino acid sequence of the Braf protein beginning at aa 596 of 766, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the protein kinase domain (UniProt.org), G596fs is predicted to lead to a loss of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF inact mut BRAF G596fs |
Transcript | NM_004333.6 |
gDNA | chr7:g.(140753349_140753350) |
cDNA | c.(1786_1785) |
Protein | p.G596fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378468.1 | chr7:g.(140753349_140753350) | c.(1786_1785) | p.G596fs | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753349delC | c.1787delG | p.G596fs*2 | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.(140753349_140753350) | c.(1786_1785) | p.G596fs | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.(140753358_140753359) | c.(1786_1785) | p.G596fs | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.(140753349_140753350) | c.(1786_1785) | p.G596fs | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.(140753349_140753350) | c.(1786_1785) | p.G596fs | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.(140753349_140753350) | c.(1786_1785) | p.G596fs | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.(140753349_140753350) | c.(1786_1785) | p.G596fs | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140753349delC | c.1787delG | p.G596fs*2 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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