ArticleClinical and translational science2020
CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants.
Article in Clinical and translational science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 42 citations in OpenAlex.
- The evolving landscape of pharmacogenomics: Current achievements and future directions.Pharmacological reviews · 2026Review
- Translating pharmacogenomic sequencing data into drug response predictions-How to interpret variants of unknown significance.British journal of clinical pharmacology · 2025Review
- Deep mutational scanning of CYP2C19 in human cells reveals a substrate specificity-abundance tradeoff.Genetics · 2024Article
- A Comparison of Molecular Techniques for Improving the Methodology in the Laboratory of Pharmacogenetics.International journal of molecular sciences · 2024Article
- Review
- Deep mutational scanning of proteins in mammalian cells.Cell reports methods · 2023Review
- Pharmacogenetics of Antiplatelet Therapy.Annual review of pharmacology and toxicology · 2023Review
- ComprehensiveFrontiers in pharmacology · 2023Article
- Challenges Related to the Use of Next-Generation Sequencing for the Optimization of Drug Therapy.Handbook of experimental pharmacology · 2023Article
- Integrating deep mutational scanning and low-throughput mutagenesis data to predict the impact of amino acid variants.GigaScience · 2022Article
- ACE2 and TMPRSS2 SARS-CoV-2 infectivity genes: deep mutational scanning and characterization of missense variants.Human molecular genetics · 2022Article
- Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Keeping pace withPharmacogenomics · 2022Review
- Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing?The Journal of molecular diagnostics : JMD · 2022Article
- Identification and drug metabolic characterization of four new CYP2C9 variantsFrontiers in pharmacology · 2022Article
- Mapping the miRNA-mRNA Interactome in Human Hepatocytes and Identification of Functional mirSNPs in Pharmacogenes.Clinical pharmacology and therapeutics · 2021Article
- Massively parallel characterization of CYP2C9 variant enzyme activity and abundance.American journal of human genetics · 2021Article
- Comprehensive Allele Genotyping in Critical Pharmacogenes Reduces Residual Clinical Risk in Diverse Populations.Clinical pharmacology and therapeutics · 2021Article
- Article
- Evaluation ofPharmacogenomics and personalized medicine · 2021Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Single nucleotide variants in the open reading frames (ORFs) of pharmacogenes are important causes of interindividual variability in drug response. The functional characterization of variants of unknown significance within ORFs remains a major challenge for pharmacogenomics. Deep mutational scanning (DMS) is a high-throughput technique that makes it possible to analyze the functional effect of hundreds of variants in a parallel and scalable fashion. We adapted a "landing pad" DMS system to study the function of missense variants in the ORFs of cytochrome P450 family 2 subfamily C member 9 (CYP2C9) and cytochrome P450 family 2 subfamily C member 19 (CYP2C19). We studied 230 observed missense variants in the CYP2C9 and CYP2C19 ORFs and found that 19 of 109 CYP2C9 and 36 of 121 CYP2C19 variants displayed less than ~ 25% of the wild-type protein expression, a level that may have clinical relevance. Our results support DMS as an efficient method for the identification of damaging ORF variants that might have potential clinical pharmacogenomic application.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.