Gene Variant Detail

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Gene BRAF
Variant R506_K507insLLR
Impact List insertion
Protein Effect gain of function
Gene Variant Descriptions BRAF R506_K507insLLR results in the insertion of three amino acids in the protein kinase domain of the Braf protein between amino acids 506 and 507 (UniProt.org). R506_K507insLLR results in impaired Braf homodimerization and heterodimerization, confers resistance to RAF inhibitors, and leads to increased phosphorylation of Erk1/2 and downstream signaling, and foci formation in cultured cells (PMID: 34108213).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF R506_K507insLLR

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Transcript NM_004333.6
gDNA chr7:g.140777090_140777091insAAGAAGCCT
cDNA c.1518_1519insCTTCTTAGG
Protein p.R506_K507insLLR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF R506_K507insLLR Advanced Solid Tumor resistant Vemurafenib Preclinical - Cell line xenograft Actionable In a preclinical study, cells expressing BRAF R506_K507insLLR were resistant to treatment with Zelboraf (vemurafenib) in culture and cell line xenograft models (PMID: 34108213). 34108213
BRAF R506_K507insLLR Advanced Solid Tumor resistant Dabrafenib Preclinical - Cell line xenograft Actionable In a preclinical study, cells expressing BRAF R506_K507insLLR were resistant to treatment with Tafinlar (dabrafenib) in culture and cell line xenograft models (PMID: 34108213). 34108213
BRAF R506_K507insLLR Advanced Solid Tumor resistant PLX8394 Preclinical - Cell line xenograft Actionable In a preclinical study, cells expressing BRAF R506_K507insLLR were resistant to treatment with PLX8394 in culture and cell line xenograft models (PMID: 34108213). 34108213
BRAF R506_K507insLLR Advanced Solid Tumor predicted - resistant LY3009120 Preclinical - Biochemical Actionable In a preclinical study, cells expressing BRAF R506_K507insLLR were resistant to treatment with LY3009120 in culture (PMID: 34108213). 34108213
BRAF R506_K507insLLR 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 R506_K507insLLR and inhibited tumor growth in cell line xenograft models (PMID: 34108213). 34108213
BRAF R506_K507insLLR Advanced Solid Tumor predicted - resistant Sorafenib Preclinical - Biochemical Actionable In a preclinical study, cells expressing BRAF R506_K507insLLR were resistant to treatment with Nexavar (sorafenib) in culture (PMID: 34108213). 34108213
BRAF R506_K507insLLR Advanced Solid Tumor predicted - sensitive Cobimetinib Preclinical - Biochemical Actionable In a preclinical study, Cotellic (cobimetinib) treatment inhibited Erk signaling in cells expressing BRAF R506_K507insLLR in culture (PMID: 34108213). 34108213
BRAF R506_K507insLLR Advanced Solid Tumor predicted - sensitive Selumetinib Preclinical - Biochemical Actionable In a preclinical study,Koselugo (selumetinib) treatment inhibited Erk signaling in cells expressing BRAF R506_K507insLLR in culture (PMID: 34108213). 34108213
BRAF R506_K507insLLR Advanced Solid Tumor predicted - sensitive Binimetinib Preclinical - Biochemical Actionable In a preclinical study, Mektovi (binimetinib) treatment inhibited Erk signaling in cells expressing BRAF R506_K507insLLR in culture (PMID: 34108213). 34108213