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 V600X BRAF V600R

BRAF mutant BRAF act mut BRAF V600R

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Transcript NM_004333.5
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_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
XM_005250045 chr7:g.140753336_140753337delACinsCT c.1798_1799delGTinsAG p.V600R RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753336_140753337delGTinsAG c.1798_1799delGTinsAG p.V600R RefSeq GRCh38/hg38

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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600R melanoma sensitive AZ628 Preclinical - Cell culture Actionable In a preclinical study, AZ628 inhibited proliferation of melanoma cell lines harboring BRAF V600R in culture (PMID: 27523909). 27523909
BRAF V600R melanoma sensitive TAK-632 Preclinical - Cell culture Actionable In a preclinical study, TAK-632 inhibited proliferation of melanoma cell lines harboring BRAF V600R in culture (PMID: 27523909). 27523909
BRAF V600R melanoma sensitive PLX7904 Preclinical - Cell culture Actionable In a preclinical study, PLX7904 inhibited proliferation of melanoma cells harboring BRAF V600R in culture (PMID: 27523909). 27523909
BRAF V600R melanoma sensitive Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, Zelboraf (vemurafenib) inhibited proliferation of melanoma cells harboring BRAF V600R in culture (PMID: 27523909). 27523909
BRAF V600R melanoma sensitive Dabrafenib Case Reports/Case Series Actionable In a clinical case study, a melanoma patient harboring BRAF V600R treated with Tafinlar (dabrafenib) demonstrated a reduction in lesion size after 2.5 months and at 5 months, stable disease, however, after 7 months progression ensued (PMID: 27255157). 27255157
BRAF V600R melanoma sensitive Dabrafenib Preclinical - Cell culture Actionable In a preclinical study, Tafinlar (dabrafenib) inhibited proliferation of melanoma cells harboring BRAF V600R in culture (PMID: 27523909). 27523909
BRAF V600R melanoma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, the combination of Mekinist (trametinib) and Tafinlar (dabrafenib) resulted in a partial response in one of two patients with melanoma harboring BRAF V600R, with a progression-free survival of 52.2 months in the responding patient (PMID: 36039514). 36039514