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Gene BRAF
Variant L485_P490delinsFS
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions BRAF L485_P490delinsFS results in a deletion of six amino acids in the protein kinase domain of the Braf protein from amino acids 485 to 490, combined with the insertion of a phenylalanine (F) and a serine (S) at the same site (UniProt.org). L485_P490delinsY results in increased Mek/Erk phosphorylation, is transforming, and is associated with resistance to select RAF inhibitors in culture (PMID: 37656784).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF L485_P490delinsFS

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Transcript NM_004333.6
gDNA chr7:g.140778038_140778055delinsGCTAAA
cDNA c.1453_1470delinsTTTAGC
Protein p.L485_P490delinsFS
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140778038_140778055delinsGCTAAA c.1453_1470delinsTTTAGC p.L485_P490delinsFS RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778038_140778055delinsGCTAAA c.1453_1470delinsTTTAGC p.L485_P490delinsFS RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778038_140778055delinsGCTAAA c.1453_1470delinsTTTAGC p.L485_P490delinsFS RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778038_140778055delinsGCTAAA c.1453_1470delinsTTTAGC p.L485_P490delinsFS RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778038_140778055delinsGCTAAA c.1453_1470delinsTTTAGC p.L485_P490delinsFS RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries