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
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_001354609.2 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
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_001378468.1 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Protein Effect Treatment Approaches
BRAF R506_K507insLLR gain of function