Gene Variant Detail

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Gene BRAF
Variant G596C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRAF G596C lies within the protein kinase domain of the Braf protein (UniProt.org). G596C results in decreased Braf kinase activity, however, leads to activation of downstream MEK and ERK in combination with CRAF in cell culture (PMID: 28947956).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF G596X BRAF G596C

BRAF mutant BRAF inact mut BRAF G596C

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Transcript NM_004333.6
gDNA chr7:g.140753349C>A
cDNA c.1786G>T
Protein p.G596C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378467.1 chr7:g.140753358C>A c.1786G>T p.G596C RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753349C>A c.1786G>T p.G596C RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753349C>A c.1786G>T p.G596C RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753349C>A c.1786G>T p.G596C RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753349C>A c.1786G>T p.G596C RefSeq GRCh38/hg38
NM_004333 chr7:g.140753349C>A c.1786G>T p.G596C RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753349C>A c.1786G>T p.G596C RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753349C>A c.1786G>T p.G596C RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753349C>A c.1786G>T p.G596C 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

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