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Gene BRAF
Variant D594A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRAF D594A lies within the protein kinase domain of the Braf protein (UniProt.org). D594A results in a lack of Braf kinase activity (PMID: 20141835, PMID: 20978199, PMID: 28783719), promotes aneupolidy (PMID: 20978199), and in one of two cell lines demonstrated decreased transformation ability compared to wild-type Braf in culture (PMID: 29533785), but leads to activation of Mek and Erk through cooperation with activated RAS and transactivation of CRAF in cell culture and mouse models (PMID: 20141835, PMID: 20978199, PMID: 28783719).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF D594X BRAF D594A

BRAF mutant BRAF inact mut BRAF D594A

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Transcript NM_004333.6
gDNA chr7:g.140753354T>G
cDNA c.1781A>C
Protein p.D594A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140753354T>G c.1781A>C p.D594A RefSeq GRCh38/hg38
NM_004333 chr7:g.140753354T>G c.1781A>C p.D594A RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753354T>G c.1781A>C p.D594A RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753354T>G c.1781A>C p.D594A RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753354T>G c.1781A>C p.D594A RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753354T>G c.1781A>C p.D594A RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753354T>G c.1781A>C p.D594A RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753354T>G c.1781A>C p.D594A RefSeq GRCh38/hg38

Filtering

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  • 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References