CYP2B6 is the only member of the CYP2B subfamily to encode a functional enzyme. Variation in this gene impacts the metabolism of several clinically important drugs, including efavirenz (see the CPIC guideline and annotation on PharmGKB), methadone and bupropion.
The paper gives an overview of CYP2B6 genetic variation and outlines the gene’s previous nomenclature system prior to being catalogued by PharmVar. Details of CYP2B6 resources on PharmGKB and CPIC as well as reference materials for genetic testing are also provided.
CYP2B6 has now been curated into PharmVar, with some alleles revised to remove SNPs with little or no evidence available to show that they caused a change in CYP2B6 function. Users should also note that the *16 and *18 alleles have been consolidated, with *16 now listed as a suballele of *18. All changes have been recorded and can be found on the PharmVar page for CYP2B6. PharmGKB and CPIC will be updating CYP2B6 information accordingly.
PharmVar would like to thank all members of the CYP2B6 gene expert panel for their efforts in curating this important gene.