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_004333.5
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_001354609.1 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
XM_005250045 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

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