Gene Variant Detail

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Gene BRAF
Variant D594N
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF D594N lies within the protein kinase domain of the Braf protein (UniProt.org). D594N results in impaired Braf kinase activity, but leads to activation of Erk signaling through CRAF in cell culture (PMID: 28783719), and demonstrates decreased transforming ability compared to wild-type Braf in one of two cell lines in culture (PMID: 29533785), and therefore is predicted to confer a loss of function to the Braf protein.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF D594X BRAF D594N

BRAF mutant BRAF inact mut BRAF D594N

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Transcript NM_004333.5
gDNA chr7:g.140753355C>T
cDNA c.1780G>A
Protein p.D594N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753355C>T c.1780G>A p.D594N RefSeq GRCh38/hg38
NM_004333 chr7:g.140753355C>T c.1780G>A p.D594N RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753355C>T c.1780G>A p.D594N RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753355C>T c.1780G>A p.D594N RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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  • 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 D594N loss of function - predicted MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor