@PharmVar

We are a central repository for pharmacogene (PGx) variation focusing on haplotype structure and allelic variation & helping with PGx test interpretation.

pharmvar.org
Joined November 2018
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Is #CYP2A6 among your favorite genes? Want to learn more about this #pharmacogene? Check out PharmVar's latest GeneFocus article at ascpt.onlinelibrary.wiley.co…
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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.
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#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
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PharmVar retweeted
PharmVar@PharmVar11 Mar 2024
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.
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#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.
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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.
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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.
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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.co…

Updated DPYD HapB3 haplotype structure and implications for pharmacogenomic testing

The DPYD gene encodes dihydropyrimidine dehydrogenase, the rate-limiting enzyme for the metabolism of fluoropyrimidines 5-fluorouracil and capecitabine. Genetic variants in DPYD have been associated...

ascpt.onlinelibrary.wiley.com
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#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.
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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…
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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
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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.
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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
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Please consider taking this important survey to help the ClinGen PGx working group
ClinGen@ClinGenResource18 Mar 2023
We'd like to hear your thoughts on pharmacogenomics! ClinGen's PGxWG launched a survey to assess the needs of the clinical genetics community. Please share your thoughts on criteria, terminology, actionability, barriers, & more: stanforduniversity.qualtrics… #ACMGMtg23
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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.
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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
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#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.
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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.
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Check out these new CYP2D6 alleles in #PharmVar
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