Gene Variant Detail

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Gene BRAF
Variant V600R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF V600R (previously reported as V599) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600R confers a gain of function to the Braf protein as demonstrated by increased Braf kinase activity, downstream signaling, and the ability to transform cells in culture (PMID: 15035987, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600R

BRAF mutant BRAF V600X BRAF V600R

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Transcript NM_004333.6
gDNA chr7:g.140753336_140753337delGTinsAG
cDNA c.1798_1799delGTinsAG
Protein p.V600R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.1 chr7:g.140753336_140753337delGTinsAG c.1798_1799delGTinsAG p.V600R RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753336_140753337delGTinsAG c.1798_1799delGTinsAG p.V600R RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753336_140753337delGTinsAG c.1798_1799delGTinsAG p.V600R RefSeq GRCh38/hg38
NM_004333 chr7:g.140753336_140753337delACinsCT c.1798_1799delGTinsAG p.V600R RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753336_140753337delGTinsAG c.1798_1799delGTinsAG p.V600R RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753336_140753337delGTinsAG c.1798_1799delGTinsAG p.V600R RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753336_140753337delACinsCT c.1798_1799delGTinsAG p.V600R RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753336_140753337delGTinsAG c.1798_1799delGTinsAG p.V600R RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT03839342 Phase II Binimetinib + Encorafenib Binimetinib and Encorafenib for the Treatment of Advanced Solid Tumors With Non-V600E BRAF Mutations (BEAVER) Active, not recruiting CAN 0
NCT02693535 Phase II Cobimetinib + Vemurafenib Atezolizumab + Talazoparib Regorafenib Larotrectinib Trastuzumab + Tucatinib Ipilimumab + Nivolumab Palbociclib Afatinib Entrectinib Talazoparib Pembrolizumab Temsirolimus Pertuzumab + Trastuzumab Atezolizumab + Pertuzumab/trastuzumab/hyaluronidase-zzxf Crizotinib Abemaciclib Sunitinib Olaparib TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer (TAPUR) Recruiting USA 0
NCT04074096 Phase II Binimetinib + Encorafenib + Pembrolizumab Binimetinib Encorafenib Pembrolizumab +/- Stereotactic Radiosurgery in BRAFV600 Melanoma With Brain Metastasis (BEPCOME-MB) Active, not recruiting FRA 0
NCT02200562 Phase Ib/II Dabrafenib + Ipilimumab Ipilimumab and Dabrafenib in the 1st Line Tx of Unresectable Stage III/IV Melanoma Terminated USA 0
NCT02257424 Phase Ib/II Dabrafenib + Hydroxychloroquine + Trametinib Dabrafenib, Trametinib and Hydroxychloroquine in Patients With Advanced BRAF Mutant Melanoma (BAMM) Completed USA 0