BRAF L514V
Gene Variant Detail

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Gene BRAF
Variant L514V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF L514V lies within the protein kinase domain of the Braf protein (UniProt.org). L514V results in a moderate increase of Mek and Erk phosphorylation in culture and enhanced dimerization when expressed in cis with BRAF V600E, and is associated with resistance to Raf inhibitors (PMID: 29880583), but has not been individually characterized and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF L514V

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Transcript NM_004333.6
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_001378468.1 chr7:g.140777066G>C c.1540C>G p.L514V RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140777066G>C c.1540C>G p.L514V RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140777066G>C c.1540C>G p.L514V RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140777066G>C c.1540C>G p.L514V RefSeq GRCh38/hg38
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
NM_001378474.1 chr7:g.140777066G>C c.1540C>G p.L514V 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.
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Molecular Profile Protein Effect Treatment Approaches
BRAF L514V unknown
BRAF L514V BRAF V600E