Gene Variant Detail

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Gene BRAF
Variant D594H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF D594H lies within the protein kinase domain of the Braf protein (UniProt.org). D594H results in a loss of Braf kinase activity, but leads to Ras-dependent activation of Erk signaling through CRAF (PMID: 28783719), and demonstrates decreased transforming activity 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 inact mut BRAF D594H

BRAF mutant BRAF D594X BRAF D594H

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Transcript NM_004333.5
gDNA chr7:g.140753355C>G
cDNA c.1780G>C
Protein p.D594H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753355C>G c.1780G>C p.D594H RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753355C>G c.1780G>C p.D594H RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753355C>G c.1780G>C p.D594H RefSeq GRCh38/hg38
NM_004333 chr7:g.140753355C>G c.1780G>C p.D594H 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