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BRAF L485_P490delinsY - Gene Variant Detail

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Gene BRAF
Variant L485_P490delinsY
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions BRAF L485_P490delinsY 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 tyrosine (Y) 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_P490delinsY

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Transcript NM_004333.6
gDNA chr7:g.140778038_140778055delinsATA
cDNA c.1453_1470delinsTAT
Protein p.L485_P490delinsY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047420769.1 chr7:g.140778038_140778055delinsATA c.1453_1470delinsTAT p.L485_P490delinsY RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778038_140778055delinsATA c.1453_1470delinsTAT p.L485_P490delinsY RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778038_140778055delinsATA c.1453_1470delinsTAT p.L485_P490delinsY RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778038_140778055delinsATA c.1453_1470delinsTAT p.L485_P490delinsY RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778038_140778055delinsATA c.1453_1470delinsTAT p.L485_P490delinsY RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778038_140778055delinsATA c.1453_1470delinsTAT p.L485_P490delinsY RefSeq GRCh38/hg38
NM_004333 chr7:g.140778038_140778055delinsATA c.1453_1470delinsTAT p.L485_P490delinsY RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778038_140778055delinsATA c.1453_1470delinsTAT p.L485_P490delinsY RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778038_140778055delinsATA c.1453_1470delinsTAT p.L485_P490delinsY RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References