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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 leads to activation of Erk signaling through CRAF but results in impaired Braf kinase activity in cell culture (PMID: 28783719) and decreased transformation ability compared to wild-type Braf in one of two cell lines in culture (PMID: 29533785), and therefore, is predicted to lead to a loss of Braf protein function.
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_004333.6
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_001378474.1 chr7:g.140753355C>T c.1780G>A p.D594N RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753355C>T c.1780G>A p.D594N RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753355C>T c.1780G>A p.D594N RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753355C>T c.1780G>A p.D594N RefSeq GRCh38/hg38
NM_001354609.2 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
NM_001354609.1 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

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries