BRAF G596R
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 impaired Braf kinase activity, but leads to Craf-dependent activation of Erk in culture (PMID: 19735675, PMID: 28783719, PMID: 18697864), demonstrates similar cell proliferation and viability levels to wild-type Braf (PMID: 29533785), is not transforming in culture, and does not promote tumor formation in mouse models (PMID: 19735675), 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_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_001378467.1 chr7:g.140753358C>G c.1786G>C p.G596R RefSeq GRCh38/hg38
NM_004333 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_001354609.1 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_001378468.1 chr7:g.140753349C>G c.1786G>C p.G596R RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753349C>G c.1786G>C p.G596R RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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