Katrin Sangkuhl

PharmVar and PharmGKB are excited to share that NAT2 has been transitioned into the PharmVar database and updated accordingly on PharmGKB. NAT2 metabolizes several pharmaceutical substrates, including isoniazid, hydralazine, amifampridine, procainamide and sulfonamides, as well as some highly carcinogenic arylamines. NAT2 enzymatic activity varies considerably between individuals, due to polymorphisms

PharmVar continues to evolve and strive to offer high-quality content to our global users. To allow us to bring new clinically relevant content to PharmVar we needed to make some difficult decisions and ‘retire’ several CYP genes. This decision is based on a newly developed points-based rating system (0-100 points)

PharmVar announces several updates for CYP3A4 star allele definitions. Retirement of the CYP3A4*1G allele: this allele was defined by a common variant in intron 10 (c.1026+12G>A) which was also found on many other haplotypes (or star alleles). PharmVar transiently designated the CYP3A4*1G allele as

CYP4F2 contributes to the synthesis of cholesterol, steroids and other lipids. It has been shown to regulate the bioavailability of vitamin E and vitamin K, a co-factor that is critical to blood clotting. Variations in this important pharmacogene can affect vitamin K levels and thus, the dosing of vitamin K