Gene Variant Detail

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Gene BRAF
Variant V504_R506dup
Impact List duplication
Protein Effect gain of function
Gene Variant Descriptions BRAF V504_R506dup (also referred to as R506_K507insVLR) indicates the insertion of three amino acids, valine (V)-504 through arginine (R)-506, in the protein kinase domain of the Braf protein (UniProt.org). V504_R506dup confers a gain of function to the Braf protein as demonstrated by stabilization of Braf homodimers, increased downstream Erk phosphorylation in cultured cells (PMID: 23817572, PMID: 30575814), and association with increased Erk1/2 phosphorylation in human tumor samples (PMID: 29544532), and has been associated with resistance to select Raf and Mek inhibitors in cultured cells (PMID: 30575814).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF V504_R506dup

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Transcript NM_004333.6
gDNA chr7:g.140777088_140777998
cDNA c.1510_1518
Protein p.V504_R506
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140777088_140777998 c.1510_1518 p.V504_R506 RefSeq GRCh38/hg38
XM_005250045 chr7:g.140777090_140777091insAAGTACCCT c.1518_1519insGTACTTAGG p.V504_R506dupVLR RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140777088_140777998 c.1510_1518 p.V504_R506 RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140777088_140777998 c.1510_1518 p.V504_R506 RefSeq GRCh38/hg38
NM_004333 chr7:g.140777090_140777091insAAGTACCCT c.1518_1519insGTACTTAGG p.V504_R506dupVLR RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140777088_140777998 c.1510_1518 p.V504_R506 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140777088_140777998 c.1510_1518 p.V504_R506 RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140777088_140777998 c.1510_1518 p.V504_R506 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140777088_140777998 c.1510_1518 p.V504_R506 RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries