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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

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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_001378474.1 chr7:g.140753335_140753336delTGinsAC 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_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
NM_001354609.2 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_004333 chr7:g.140753335_140753336delCAinsGT c.1799_1800delTGinsAC p.V600D RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600D PTEN loss melanoma sensitive XL147 Preclinical - Cell line xenograft Actionable In a preclinical study, XL147 inhibited tumor growth in xenograft models of a PTEN-deficient human melanoma cell line harboring BRAF V600D (PMID: 25637314). 25637314
BRAF V600D NRAS dec exp melanoma no benefit Binimetinib Preclinical - Cell culture Actionable In a preclinical study, a melanoma cell line harboring BRAF V600D and knockdown of NRAS demonstrated a decreased response to Mektovi (binimetinib) relative to cells without NRAS knockdown in culture (PMID: 29245078). 29245078