Gene Variant Detail

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Gene BRAF
Variant G596D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF G596D lies within the protein kinase domain of the Braf protein (UniProt.org). G596D demonstrates decreased Braf kinase activity in one study (PMID: 28783719), but results in increased Erk phosphorylation in another study, and is associated with resistance to Raf inhibitors (PMID: 31158244), and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF G596X BRAF G596D

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Transcript NM_004333.6
gDNA chr7:g.140753348C>T
cDNA c.1787G>A
Protein p.G596D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378467.1 chr7:g.140753357C>T c.1787G>A p.G596D RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753348C>T c.1787G>A p.G596D RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753348C>T c.1787G>A p.G596D RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753348C>T c.1787G>A p.G596D RefSeq GRCh38/hg38
NM_004333 chr7:g.140753348C>T c.1787G>A p.G596D RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753348C>T c.1787G>A p.G596D RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753348C>T c.1787G>A p.G596D RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753348C>T c.1787G>A p.G596D RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753348C>T c.1787G>A p.G596D 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF G596D breast cancer predicted - resistant Dabrafenib Preclinical Actionable In a preclinical study, Tafinlar (dabrafenib) treatment did not inhibit Erk phosphorylation in breast cancer cells expressing BRAF G596D in culture (PMID: 31158244). 31158244