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Gene BRAF
Variant V487_P492delinsA
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions BRAF V487_P492delinsA results in a deletion of six amino acids in the protein kinase domain of the Braf protein from amino acids 487 to 492, combined with the insertion of an alanine (A) at the same site (UniProt.org). V487_P492delinsA results in increased Mek/Erk phosphorylation, cell proliferation and transformation (PMID: 26732095, PMID: 37656784), and confers resistance to select RAF inhibitors in culture (PMID: 37656784).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF V487_P492delinsA

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Transcript NM_004333.6
gDNA chr7:g.140778034_140778048del15
cDNA c.1460_1474del15
Protein p.V487_P492delinsA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries