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@jax.org

Gene BRAF
Variant L514V
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF L514V lies within the protein kinase domain of the Braf protein (UniProt.org). L514V is predicted to lead to a gain of Braf function as indicated by moderate increase of Mek and Erk phosphorylation in culture, enhanced dimerization when expressed in cis with BRAF V600E, and is associated with resistance to Raf inhibitors (PMID: 29880583).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF L514V

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"

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_004333.5
gDNA chr7:g.140777066G>C
cDNA c.1540C>G
Protein p.L514V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140777066G>C c.1540C>G p.L514V RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140777066G>C c.1540C>G p.L514V RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140777066G>C c.1540C>G p.L514V RefSeq GRCh38/hg38
XM_005250045 chr7:g.140777066G>C c.1540C>G p.L514V 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"

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
BRAF L514V breast cancer resistant Dabrafenib Preclinical - Cell culture Actionable In a preclinical study, Tafinlar (dabrafenib) did not inhibit Erk and Mek signaling in breast cancer cells expressing BRAF L514V in culture (PMID: 29880583). 29880583