PharmVar

Is #CYP2A6 among your favorite genes? Want to learn more about this #pharmacogene? Check out PharmVar's latest GeneFocus article at ascpt.onlinelibrary.wiley.com/doi/epdf/10.10…

@pgrnhub @TwesiDave Congratulations! #PharmVar is looking forward receiving and naming the many new haplotypes the project will discover in these populations

Congratulations to the 2024 PGRN PacBio® Twist Long Read Sequencing Grant recipients Drs. Twesigomwe @TwesiDave, Masimirembwa and Jaufeerally-Fakim for their project "Genetic Variation in Key Pharmacogenes in South Africans and Mauritians"!

PGRN is delighted to announce 2024 PGRN Grant recipients and congratulate them on their accomplishment. We received a record number of applications this cycle, reflecting the growing interest, innovation, and collaboration in the field of pharmacogenomics. #pharmacogenomics #PGx

@pgrnhub @YuanJi1 To add to Wendy's accomplishments: she is behind many submissions to #PharmVar that are cited as "deposited by the PharmVar" team.

May is Asian & Pacific American Heritage Month. Join us in recognizing our May Spotlights! Member Spotlight: Yuan Ji, PhD, MBA @YuanJi1 Trainee Member Spotlight: Wendy Wang, MS Read their stories here: pgrn.org/page-18221

The #NAT workshop planning committee is soliciting speakers for its international workshop on N-acetyltransferases that will be held Sept 25 as a satellite of the #PGRN Scientific Meeting. If you are interested to present please contact David Hein at david.hein@louisville.edu.

#PharmVar gene page headers have a new design! It is now easier than ever to directly link to the corresponding gene pages of our #ClinPGx partners #CPIC and #PharmGKB. Links to our Read Me, Change Log, SV and More documents are now also in the header to make them easier to find

1/2 #PharmVar has a new gene! Excited to announce that #NAT2 nomenclature has been transferred to PharmVar. Big shout out to the expert panel for their diligent work over the last couple of years to make this happen.

#NAT2 is now a #PharmVar gene! Many thanks to the outgoing Nomenclature Committee for their services to the NAT community since 1998, and Sotiria Boukouvala and David Hein for their leadership during the transition, and continuing support as we move forward.

2/2 Several changes were made to conform nomenclature to PharmVar rules and standards which are detailed in the Read Me and Change Log documents at pharmvar.org/gene/NAT2. The “Look-up” table under “More Documents” facilitates easy conversion of the old to the new nomenclature.

Rethink using c.1236G>A as a tagSNP! Updated DPYD HapB3 haplotype structure and implications for pharmacogenomic testing - Turner - Clinical and Translational Science - Wiley Online Library ascpt.onlinelibrary.wiley.com/doi/abs/10.111…

#PharmVar has a new look! Upon user request rsIDs are now provided along variant positions and impact. rsIDs link out directly to dbSNP while clicking on variant positions will open the variant window detailing SNP positions across different reference sequences.

The ClinGen Pharmacogenomics Working Group survey closes this Friday, June 30 - If you haven’t already, please share your thoughts with us at stanforduniversity.qualtrics.com/jfe/form/SV_1I…

4/4 PharmVar will deactivate access to the archived version of the Human Cytochrome P450 (CYP) Allele Nomenclature record to discourage use of outdated information. A copy may be requested through PharmVar support support@pharmvar.org

3/ PharmVar will also remove records for the following ‘legacy’ genes: CYP4A11, CYP4A22, CYP4B1, CYP17A1, CYP19A1, CYP21A2, CYP26A1, TBXAS1, and PTGIS. Other databases such as ClinGen and/or ClinVar should be consulted for variation annotations.

1/ #PharmVar announces major content changes. The decision to retire several CYP genes is based on a points-based rating system allowing us to prioritize genes of interest. More detailed information will be posted under the PharmVar GENES tab once changes take effect May 12, 2023

Please consider taking this important survey to help the ClinGen PGx working group

2/2 c.1026+12G>A removed from #CYP3A4*8, *9, *15, *16, *18, *19, *23, *24, and *28 Many rare alleles are now fully characterized and have an evidence level of ‘Definitive’ Addition of *38, a new star allele

1/2 Check out a series of #PharmVar updates for #CYP3A4: Retired CYP3A4*36 (formerly *1G) due to inconsistent information regarding the impact of its defining intronic variant (c.1026+12G>A) on protein function. More details see the Read Me document on the CYP3A4 gene page.

CYP4F2*5 and *6 are absent or rare in Asians and *7 was mostly found in Africans and their descendants. These new star alleles may contribute to unexplained variability in daily warfarin dosage requirements in non-White populations and should be included in future research.

#CYP4F2 is now fully curated by #PharmVar and content reviewed by an international expert panel. Today's release includes four novel CYP4F2 star alleles. CYP4F2*4 has both variants that otherwise define *2 and *3 and CYP4F2*5, *6 and *7 each have a single amino acid change.