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Gene BRAF
Variant L597V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L597V lies within the protein kinase domain of the Braf protein (UniProt.org). L597V results in activation of Braf as indicated by increased phosphorylation of Mek and Erk in cell culture (PMID: 22798288) and and induces cell proliferation and cell viability in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF L597V

BRAF mutant BRAF L597X BRAF L597V

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Transcript NM_004333.6
gDNA chr7:g.140753346G>C
cDNA c.1789C>G
Protein p.L597V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_004333 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749334A>C c.1789T>G p.L597V RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749334A>C c.1789T>G p.L597V RefSeq GRCh38/hg38

Filtering

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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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT03843775 Phase Ib/II Binimetinib + Encorafenib A Study of Binimetinib and Encorafenib in Advanced BRAF Mutant Cancers Completed USA 0