Gene | BRAF |
Variant | insertion |
Amino Acid Change | T599_V600insV |
DNA Change (Coding Nucleotide) | 1795GTTins |
Transcript ID (GRCh37/hg19) | ENST00000288602 |
Codon | 599-600 |
Exon | 15 |
Genomic Coordinates (GRCh37/hg19) | 7:140453140-140453140 |
Germline/Somatic? | Somatic |
Tumor Type | Primary Site | |
---|---|---|
Papillary Carcinoma | Thyroid |
This mutation, namely a 1795GTT insertion, results in BRAF V599Ins. Kinase assays on BRAF V599Ins and BRAF V600E show increased enzymatic activity, increased phosphorylation of MEK, MAPK and RSK and a high transformation rate in the cells compared to wild type BRAF. Thus, BRAF V599Ins, similar to BRAF V600E, is a 'gain of function' mutation, with constitutive activation, which accounts for its role in papillary cancer of the thyroid.