BRAF V600E
Gene Variant Detail

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Gene BRAF
Variant V600E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF V600E (previously reported as V599E) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600E confers a gain of function to the Braf protein as demonstrated by increased Braf kinase activity, downstream signaling, and the ability to transform cells in culture (PMID: 15035987, PMID: 29533785, PMID: 18697864).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600E/K BRAF V600E

BRAF mutant BRAF V600X BRAF V600E/K BRAF V600E

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Transcript NM_004333.6
gDNA chr7:g.140753336A>T
cDNA c.1799T>A
Protein p.V600E
Source Database RefSeq
Genome Build 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.