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_004333.6
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_001378474.1 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_001354609.1 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_004333.5 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_001378468.1 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References