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BRAF p.G596R Reference Standard

CBP10242

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Introduction 
Format Genomic DNA
Description BRAF G596R lies within the protein kinase domain of the Braf protein, within the DFG motif (PMID: 19735675). G596R results in impaired Braf kinase activity and decreased Mek and Erk phosphorylation, including in the presence of BRAF V600E, is not transforming in culture and does not promote tumor formation in mouse models, but results in activation of Erk in the presence of CRAF (PMID: 19735675, PMID: 28783719), however, in another study demonstrates similar cell proliferation and viability levels to wild-type Braf (PMID: 29533785), and is predicted to confer a loss of function to the Braf protein.
   
Technical Data 
DNA Change c.1786G>C
AA Change p.G596R
Mutation type Substitution - Missense
Zygosity Heterozygous
Allelic Frequency 33.33%
Transcript NM_004333.6
Cosmic ID COSM469
Chr position(GRCh37) chr7:140453149
Buffer Tris-EDTA
   
Product Information 
Intended Use Research Use Only
Unit Size 1ug
Concentration Download for COA
Purofication Download for COA
DNA electrophoresis Download for COA
Sanger sequencing
Storage 2-8
Expiry 36 months from the date of manufacture

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