Gene Variant Detail

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Gene BRAF
Variant D594V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRAF D594V lies within the protein kinase domain of the Braf protein (UniProt.org). D594V results in impaired Braf kinase activity, and decreased activation of Erk, Mek, and CRAF in cell culture (PMID: 28947956, PMID: 15035987), and has decreased transforming ability in one of two cell lines compared to wild-type Braf in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF D594X BRAF D594V

BRAF mutant BRAF inact mut BRAF D594V

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Transcript NM_004333.6
gDNA chr7:g.140753354T>A
cDNA c.1781A>T
Protein p.D594V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140753354T>A c.1781A>T p.D594V RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753354T>A c.1781A>T p.D594V RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753354T>A c.1781A>T p.D594V RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753354T>A c.1781A>T p.D594V RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753354T>A c.1781A>T p.D594V RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753354T>A c.1781A>T p.D594V RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753354T>A c.1781A>T p.D594V RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753354T>A c.1781A>T p.D594V 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 D594V loss of function