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 |
