Gene Variant Detail

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Gene BRAF
Variant V600fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF V600fs results in a change in the amino acid sequence of the Braf protein beginning at aa 600 of 766, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the protein kinase domain, V600fs is predicted to lead to a loss of Braf protein function (UniProt.org).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF V600fs

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Transcript NM_004333.5
gDNA chr7:g.(140753337_140753338)
cDNA c.(1798_1797)
Protein p.V600fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140753336_140753337delAC c.1799_1800delTG p.V600fs*11 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.(140753337_140753338) c.(1798_1797) p.V600fs RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.(140753337_140753338) c.(1798_1797) p.V600fs RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753336_140753337delAC c.1799_1800delTG p.V600fs*11 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References