Gene Variant Detail

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Gene BRAF
Variant L597S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L597S lies within the protein kinase domain of the Braf protein (UniProt.org). L597S results in activation of Braf as indicated by increased phosphorylation of Mek and Erk in cell culture (PMID: 22798288) and induces cell proliferation and cell viability in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF L597S

BRAF mutant BRAF L597X BRAF L597S

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Transcript NM_004333.6
gDNA chr7:g.140753345_140753346delCTinsTC
cDNA c.1789_1790delCTinsTC
Protein p.L597S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753345_140753346delAGinsGA c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749333A>G c.1790T>C p.L597S RefSeq GRCh38/hg38
NM_004333 chr7:g.140753345_140753346delAGinsGA c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749333A>G c.1790T>C p.L597S RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38

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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