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Gene | BRAF |
Variant | V600D |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF V600D (previously reported as V599) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600D confers a gain of function to the Braf protein as demonstrated by increased kinase activity, downstream signaling, and the ability to transform cells in vitro (PMID: 15035987). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF V600D BRAF mutant BRAF V600X BRAF V600D |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753335_140753336delTGinsAC |
cDNA | c.1799_1800delTGinsAC |
Protein | p.V600D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333 | chr7:g.140753335_140753336delCAinsGT | c.1799_1800delTGinsAC | p.V600D | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753335_140753336delTGinsAC | c.1799_1800delTGinsAC | p.V600D | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753335_140753336delTGinsAC | c.1799_1800delTGinsAC | p.V600D | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753335_140753336delTGinsAC | c.1799_1800delTGinsAC | p.V600D | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753335_140753336delTGinsAC | c.1799_1800delTGinsAC | p.V600D | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753335_140753336delTGinsAC | c.1799_1800delTGinsAC | p.V600D | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753335_140753336delTGinsAC | c.1799_1800delTGinsAC | p.V600D | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753335_140753336delCAinsGT | c.1799_1800delTGinsAC | p.V600D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|---|---|---|---|---|---|
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 |
NCT04201457 | Phase Ib/II | Hydroxychloroquine + Trametinib Dabrafenib + Hydroxychloroquine + Trametinib | A Trial of Dabrafenib, Trametinib and Hydroxychloroquine for Patients With Recurrent LGG or HGG With a BRAF Aberration | Recruiting | USA | 0 |
NCT03915951 | Phase II | Binimetinib + Encorafenib | An Open-label Study of Encorafenib + Binimetinib in Patients With BRAFV600-mutant Non-small Cell Lung Cancer | Active, not recruiting | USA | NLD | ITA | ESP | 1 |
NCT01659151 | Phase II | Aldesleukin Fludarabine Vemurafenib | Vemurafenib With Lymphodepletion Plus Adoptive Cell Transfer and High Dose IL-2 Metastatic Melanoma | Active, not recruiting | USA | 0 |
NCT02257424 | Phase Ib/II | Dabrafenib + Hydroxychloroquine + Trametinib | Dabrafenib, Trametinib and Hydroxychloroquine in Patients With Advanced BRAF Mutant Melanoma (BAMM) | Completed | 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 |
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 |