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Gene BRAF
Variant L597Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L597Q lies within the protein kinase domain of the Braf protein (UniProt.org). L597Q 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 L597Q

BRAF mutant BRAF L597X BRAF L597Q

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Transcript NM_004333.6
gDNA chr7:g.140753345A>T
cDNA c.1790T>A
Protein p.L597Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_004333 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749333_140749334delTTinsCA c.1789_1790delTTinsCA p.L597Q RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749333_140749334delTTinsCA c.1789_1790delTTinsCA p.L597Q 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