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BRAF D594H - Gene Variant Detail

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Gene BRAF
Variant D594H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF D594H lies within the protein kinase domain of the Braf protein (UniProt.org). D594H leads to Ras-dependent activation of Erk signaling through CRAF but results in a loss of Braf kinase activity (PMID: 28783719) and demonstrates decreased transforming activity compared to wild-type Braf in one of two cell lines in culture (PMID: 29533785), and therefore, is predicted to lead to a loss of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF D594X BRAF D594H

BRAF mutant BRAF inact mut BRAF D594H

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Transcript NM_004333.6
gDNA chr7:g.140753355C>G
cDNA c.1780G>C
Protein p.D594H
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.