Gene Variant Detail

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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

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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 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_004333.6 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
XM_005250045 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
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

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries