Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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

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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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
XM_005250045 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
NM_001378468.1 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_001378474.1 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_001378467.1 chr7:g.140753358C>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 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
BRAF G596R loss of function - predicted MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor
BRAF G596R PIK3CA E545K
BRAF G596R NRAS Q61K