Gene Variant Detail

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Gene BRAF
Variant R347*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF R347* results in a premature truncation of the Braf protein at amino acid 347 of 766 (UniProt.org). Due to the loss of a portion of the protein kinase domain (UniProt.org), R347* is predicted to lead to a loss of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF R347*

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Transcript NM_004333.6
gDNA chr7:g.140794409G>A
cDNA c.1039C>T
Protein p.R347*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001374258.1 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
XM_017012559 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
XM_017012558 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
XM_005250045 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140783031_140783032delAGinsTA c.1039_1040delAGinsTA p.R347* RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
NM_004333 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140794409G>A c.1039C>T p.R347* RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries