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
gDNA chr7:g.140777090_140777091insAAGTACCCT
cDNA c.1518_1519insGTACTTAGG
Protein p.V504_R506dupVLR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.1 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
XM_005250045 chr7:g.140777090_140777091insAAGTACCCT c.1518_1519insGTACTTAGG p.V504_R506dupVLR RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V504_R506dup Advanced Solid Tumor predicted - resistant Sorafenib Preclinical - Biochemical Actionable In a preclinical study, cells expressing BRAF V504_R506dup were resistant to treatment with Nexavar (sorafenib) in culture (PMID: 34108213). 34108213
BRAF V504_R506dup Advanced Solid Tumor predicted - resistant Sorafenib Preclinical - Biochemical Actionable In a preclinical study, transformed cells overexpressing BRAF V504_R506dup were resistant to Nexavar (sorafenib) in culture (PMID: 30575814). 30575814
BRAF V504_R506dup Advanced Solid Tumor resistant Vemurafenib Preclinical - Cell line xenograft Actionable In a preclinical study, cells expressing BRAF V504_R506dup were resistant to treatment with Zelboraf (vemurafenib) in culture and cell line xenograft models (PMID: 34108213). 34108213
BRAF V504_R506dup Advanced Solid Tumor resistant Vemurafenib Preclinical - Biochemical Actionable In a preclinical study, transformed cells overexpressing BRAF V504_R506dup were resistant to Zelboraf (vemurafenib) in culture (PMID: 30575814). 30575814
BRAF V504_R506dup Advanced Solid Tumor sensitive Trametinib Preclinical - Cell line xenograft Actionable In a preclinical study, Mekinist (trametinib) treatment resulted in decreased Erk signaling in cultured cells expressing BRAF V504_R506dup and inhibited tumor growth in cell line xenograft models (PMID: 34108213). 34108213
BRAF V504_R506dup Advanced Solid Tumor sensitive Trametinib Preclinical - Biochemical Actionable In a preclinical study, Mekinist (trametinib)treatment resulted in decreased Erk1/2 phosphorylation in transformed cells expressing BRAF V504_R506dup in culture (PMID: 30575814). 30575814
BRAF V504_R506dup Advanced Solid Tumor resistant Dabrafenib Preclinical - Cell line xenograft Actionable In a preclinical study, cells expressing BRAF V504_R506dup were resistant to treatment with Tafinlar (dabrafenib) in culture and cell line xenograft models (PMID: 34108213). 34108213
BRAF V504_R506dup Advanced Solid Tumor resistant PLX8394 Preclinical - Cell line xenograft Actionable In a preclinical study, cells expressing BRAF V504_R506dup were resistant to treatment with PLX8394 in culture and cell line xenograft models (PMID: 34108213). 34108213
BRAF V504_R506dup Advanced Solid Tumor predicted - resistant LY3009120 Preclinical - Biochemical Actionable In a preclinical study, cells expressing BRAF V504_R506dup were resistant to treatment with LY3009120 in culture (PMID: 34108213). 34108213