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Gene BRAF
Variant D594E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRAF D594E lies within the protein kinase domain of the Braf protein (UniProt.org). D594E results in impaired Braf kinase activity, however, results in increased Mek and Erk phosphorylation in the presence of CRAF in cell culture (PMID: 28783719).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF D594X BRAF D594E

BRAF mutant BRAF inact mut BRAF D594E

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Transcript NM_004333.6
gDNA chr7:g.140753353A>C
cDNA c.1782T>G
Protein p.D594E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140753353A>C c.1782T>G p.D594E RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753353A>C c.1782T>G p.D594E RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753353A>C c.1782T>G p.D594E RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753353A>C c.1782T>G p.D594E RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753353A>C c.1782T>G p.D594E RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753353A>C c.1782T>G p.D594E RefSeq GRCh38/hg38
NM_004333 chr7:g.140753353A>C c.1782T>G p.D594E RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753353A>C c.1782T>G p.D594E RefSeq GRCh38/hg38

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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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries