Gene Variant Detail

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Gene BRAF
Variant G593V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF G593V lies within the protein kinase domain of the Braf protein (UniProt.org). G593V is associated with EGFR inhibitor resistance in the context of an EGFR exon 19 deletion (PMID: 38838224), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF G593V

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Transcript NM_004333.6
gDNA chr7:g.140753357C>A
cDNA c.1778G>T
Protein p.G593V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140753357C>A c.1778G>T p.G593V RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753357C>A c.1778G>T p.G593V RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753357C>A c.1778G>T p.G593V RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753357C>A c.1778G>T p.G593V 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.
  • 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 Protein Effect Treatment Approaches
BRAF G593V unknown