Gene Variant Detail

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Gene BRAF
Variant G596R
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF G596R lies within the protein kinase domain of the Braf protein (UniProt.org). G596R results in activation of Erk in the presence of CRAF (PMID: 19735675, PMID: 28783719, PMID: 18697864) and in another study demonstrates similar cell proliferation and viability levels to wild-type Braf (PMID: 29533785), but results in impaired Braf kinase activity and decreased Mek and Erk phosphorylation, including in the presence of BRAF V600E, is not transforming in culture, and does not promote tumor formation in mouse models (PMID: 19735675, PMID: 28783719), and therefore, is predicted to lead to a loss of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF G596X BRAF G596R

BRAF mutant BRAF inact mut BRAF G596R

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Transcript NM_004333.6
gDNA chr7:g.140753349C>G
cDNA c.1786G>C
Protein p.G596R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.1 chr7:g.140753349C>G c.1786G>C p.G596R RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753349C>G c.1786G>C p.G596R RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753349C>G c.1786G>C p.G596R RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753349C>G c.1786G>C p.G596R RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753349C>G c.1786G>C p.G596R RefSeq GRCh38/hg38
NM_004333 chr7:g.140753349C>G c.1786G>C p.G596R RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753349C>G c.1786G>C p.G596R RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140753358C>G c.1786G>C p.G596R RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753349C>G c.1786G>C p.G596R RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries