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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

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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
XM_005250045 chr7:g.140753349delC c.1787delG p.G596fs*2 RefSeq GRCh38/hg38
NM_001378468.1 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_001354609.1 chr7:g.(140753349_140753350) c.(1786_1785) p.G596fs RefSeq GRCh38/hg38
NM_001354609.2 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
NM_004333.5 chr7:g.(140753349_140753350) c.(1786_1785) p.G596fs RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries