Gene Variant Detail

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Gene BRAF
Variant V600K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF V600K (previously reported as V599) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600K 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, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600E/K BRAF V600K

BRAF mutant BRAF V600X BRAF V600E/K BRAF V600K

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Transcript NM_004333.6
gDNA chr7:g.140753336_140753337delGTinsAA
cDNA c.1798_1799delGTinsAA
Protein p.V600K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140753336_140753337delACinsTT c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753336_140753337delGTinsAA c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753336_140753337delACinsTT c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753336_140753337delGTinsAA c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753336_140753337delGTinsAA c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753336_140753337delACinsTT c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753336_140753337delGTinsAA c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT05926960 Phase II Binimetinib + Encorafenib + Pembrolizumab Ipilimumab + Nivolumab A Study Comparing 3 Study Medicines (Encorafenib, Binimetinib, Pembrolizumab) to 2 Study Medicines (Ipilimumab and Nivolumab) in Patients With Advanced Melanoma (PORTSIDE) Active, not recruiting SVK | POL | ITA | GBR | ESP | DEU | CZE 0
NCT05270044 Phase III Binimetinib + Encorafenib Adjuvant Encorafenib and Binimetinib in High-risk Stage II Melanoma With a BRAF Mutation. (COLUMBUS-AD) Active, not recruiting SWE | ROU | POL | NOR | NLD | ITA | HUN | GRC | GBR | FRA | ESP | DEU | CZE | CHE | CAN | BRA | BEL | AUT | AUS | ARG 3
NCT03973918 Phase II Binimetinib + Encorafenib Study of Binimetinib With Encorafenib in Adults With Recurrent BRAF V600-Mutated HGG (BRAF) Terminated USA 0
NCT04759846 Phase I Binimetinib + Encorafenib Hepatic Impairment Study of Encorafenib in Combination With Binimetinib in BRAF Melanoma Withdrawn ITA | ESP | CZE 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
NCT04310397 Phase II Dabrafenib + Trametinib Dabrafenib + Spartalizumab + Trametinib Dabrafenib, Trametinib, and Spartalizumab for the Treatment of BRAF V600E or V600K Mutation Positive Stage IIIB/C/D Melanoma Terminated 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
NCT06194929 Phase Ib/II Defactinib + Encorafenib + RO5126766 Defactinib + RO5126766 Defactinib and Avutometinib, With or Without Encorafenib, for the Treatment of Patients With Brain Metastases From Cutaneous Melanoma (DETERMINE) Recruiting USA 0
NCT05203172 FDA approved Encorafenib Binimetinib + Encorafenib Binimetinib + Encorafenib + Ribociclib Binimetinib + Cetuximab + Encorafenib Binimetinib The FLOTILLA Study: Providing Continued Access to The Study Medicines Encorafenib and Binimetinib for Participants in Prior Clinical Trials Recruiting USA | SVK | NLD | ITA | ISR | HUN | GBR | FRA | ESP | DEU | CZE | CAN | BRA | AUS 4
NCT02257424 Phase Ib/II Dabrafenib + Hydroxychloroquine + Trametinib Dabrafenib, Trametinib and Hydroxychloroquine in Patients With Advanced BRAF Mutant Melanoma (BAMM) Completed USA 0
NCT06007924 Phase II Defactinib + RO5126766 A Study of Avutometinib and Defactinib in People With Thyroid Cancer Recruiting USA 0
NCT04657991 Phase III Pembrolizumab Binimetinib + Encorafenib + Pembrolizumab A Clinical Trial of Three Study Medicines (Encorafenib, Binimetinib, and Pembrolizumab) in Patients With Advanced or Metastatic Melanoma Active, not recruiting USA | TUR | SVK | POL | NZL | NOR | ITA | ISR | HUN | GRC | GBR | FRA | FIN | ESP | DEU | CZE | CHE | CAN | BRA | BGR | BEL | AUT | ARG 4
NCT03878719 Phase I Binimetinib + Encorafenib Study of the Combination of Binimetinib and Encorafenib in Adolescent Patients With Unresectable or Metastatic BRAF V600-mutant Melanoma Terminated ITA 0
NCT05097378 Phase II Binimetinib + Encorafenib Perioperative Encobini in BRAFV600 Mutant Stage III (B/C/D) or Oligometastatic Stage IV Melanoma (PREMIUM) Unknown status GBR 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
NCT02465060 Phase II Nivolumab + Relatlimab Dabrafenib + Trametinib Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma (The MATCH Screening Trial) Active, not recruiting USA 2
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
NCT03898908 Phase II Binimetinib + Encorafenib Encorafenib and Binimetinib Before Local Treatment in Patients With BRAF Mutant Melanoma Metastatic to the Brain (EBRAIN-MEL) Active, not recruiting ESP 0
NCT04557956 Phase Ib/II Tazemetostat Dabrafenib + Tazemetostat + Trametinib Testing the Addition of the Anti-cancer Drug, Tazemetostat, to the Usual Treatment (Dabrafenib and Trametinib) for Metastatic Melanoma That Has Progressed on the Usual Treatment Recruiting USA 0
NCT03235245 Phase II Binimetinib + Encorafenib Ipilimumab + Nivolumab Immunotherapy With Ipilimumab and Nivolumab Preceded or Not by a Targeted Therapy With Encorafenib and Binimetinib (EBIN) Active, not recruiting POL | NLD | ITA | GBR | FRA | FIN | ESP | DNK | DEU 0
NCT03864042 Phase I Caffeine + Dextromethorphan + Losartan + Midazolam + Omeprazole Modafinil Bupropion + Rosuvastatin Binimetinib + Encorafenib Pharmacokinetic Drug-drug Interaction Study of Encorafenib and Binimetinib on Probe Drugs in Patients With BRAF V600-mutant Melanoma or Other Advanced Solid Tumors Completed USA | NLD | ESP | CAN | BEL 0
NCT02130466 Phase Ib/II Dabrafenib + Trametinib Pembrolizumab + Trametinib Dabrafenib + Pembrolizumab Dabrafenib + Pembrolizumab + Trametinib A Study of the Safety and Efficacy of Pembrolizumab (MK-3475) in Combination With Trametinib and Dabrafenib in Participants With Advanced Melanoma (MK-3475-022/KEYNOTE-022) Completed 0
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
NCT04551521 Phase II Atezolizumab Atezolizumab + Ipatasertib Atezolizumab + Pertuzumab + Trastuzumab Atezolizumab + Cobimetinib Alectinib Atezolizumab + Cobimetinib + Vemurafenib CRAFT: The NCT-PMO-1602 Phase II Trial Recruiting DEU 0
NCT03975231 Phase I Dabrafenib + Trametinib Dabrafenib, Trametinib, and IMRT in Treating Patients With BRAF Mutated Anaplastic Thyroid Cancer Recruiting USA 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