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 G469R
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF G469R is a hotspot mutation within the protein kinase domain of the Braf protein (UniProt.org). G469R demonstrates intermediate BRAF kinase activity (PMID: 28783719), results in constitutive ERK activation in cell culture (PMID: 24920063), and in one of two cell lines leads to increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785), and therefore, is predicted to lead to a gain of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF G469R

BRAF mutant BRAF G469X BRAF G469R

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.140781603C>T
cDNA c.1405G>A
Protein p.G469R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140781603C>T c.1405G>A p.G469R RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140781612C>T c.1405G>A p.G469R RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781603C>T c.1405G>A p.G469R RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781603C>T c.1405G>A p.G469R RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781603C>T c.1405G>A p.G469R RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781603C>T c.1405G>A p.G469R RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781603C>T c.1405G>A p.G469R RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781603C>T c.1405G>A p.G469R RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781603C>T c.1405G>A p.G469R RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140778001C>T c.1405G>A p.G469R RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781603C>T c.1405G>A p.G469R 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 G469R gain of function - predicted MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor
BRAF G469R NRAS Q61K