Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene BRAF
Variant K499E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF K499E lies within the protein kinase domain of the Braf protein (UniProt.org). K499E confers a gain of function to the Braf protein as demonstrated by increased Braf kinase activity and downstream signaling, activation of ELK-dependent signaling in reporter assays, and foci formation in cultured cells (PMID: 16474404, PMID: 18413255, PMID: 26065894).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF K499E

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.

Transcript NM_004333.6
gDNA chr7:g.140778013T>C
cDNA c.1495A>G
Protein p.K499E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778013T>C c.1495A>G p.K499E RefSeq GRCh38/hg38
NM_004333 chr7:g.140778013T>C c.1495A>G p.K499E 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References