Varaico: Literature-Extracted Genetic Variants

Gene:CYP2C19
Variant:p.R144H
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CYP2C19

NM_000769.4:p.R144H

Associated Papers

Clinical Implementation of Pharmacogenomics and Drug-Drug Interaction Screening in a German Academic Teaching Hospital and Outpatient Follow-Up.

Tremmel R et al.

Clinical Pharmacology and Therapeutics, 2026

41074844 (PubMed )
Supplement: CPT-119-241-s005.pdf

Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.

Prost R et al.

International Journal of Molecular Sciences, 2025

Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial.

Roncato R et al.

Jama Network Open, 2024

39641926 (PubMed )
Supplement: jamanetwopen-e2449441-s001.pdf

Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency.

Hedberg-Oldfors C et al.

Acta Neuropathologica, 2024

39586906 (PubMed )
Supplement: 401_2024_2830_MOESM1_ESM.pdf

Deep mutational scanning of CYP2C19 in human cells reveals a substrate specificity-abundance tradeoff.

Boyle GE et al.

Genetics, 2024

Phenotype-Genotype Correlation Applying a Cocktail Approach and an Exome Chip Analysis Reveals Further Variants Contributing to Variation of Drug Metabolism.

Böhm R et al.

Clinical Pharmacology and Therapeutics, 2024

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM1_ESM.xlsx › Sheet1

A New Cloud-Native Tool for Pharmacogenetic Analysis.

Yuan DY et al.

Genes, 2024

38540411 (PubMed )
Supplement: genes-15-00352-s001.zip › Pgxtools__a_new_cloud-native_tool_for_Pharmacogenetic_analysis-Supplemental-1-revised.pdf

Clinical application of a real-time polymerase chain reaction test for CYP2C19 genotyping based on genotype distribution in a healthy Korean population.

Park K et al.

Laboratory Medicine, 2024

Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.

Zhang T et al.

Peerj, 2024

39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT

Comprehensive in vitro and in silico assessments of metabolic capabilities of 24 genomic variants of CYP2C19 using two different substrates.

Seo ME et al.

Frontiers in Pharmacology, 2023

Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Yang W et al.

Jama Network Open, 2022

36580335 (PubMed )
Supplement: jamanetwopen-e2248803-s001.pdf

Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Dagli-Hernandez C et al.

Pharmaceutics, 2022

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Goljan E et al.

Plos One, 2022

Pharmacogenetics of Praziquantel Metabolism: Evaluating the Cytochrome P450 Genes of Zimbabwean Patients During a Schistosomiasis Treatment.

Zdesenko G et al.

Frontiers in Genetics, 2022

35754834 (PubMed )
Supplement: DataSheet1.pdf

Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Kim B et al.

Translational and Clinical Pharmacology, 2021

Precision Medicine into Clinical Practice: A Web-Based Tool Enables Real-Time Pharmacogenetic Assessment of Tailored Treatments in Psychiatric Disorders.

Zampatti S et al.

Journal of Personalized Medicine, 2021

Frequency of Important CYP450 Enzyme Gene Polymorphisms in the Iranian Population in Comparison with Other Major Populations: A Comprehensive Review of the Human Data.

Neyshaburinezhad N et al.

Journal of Personalized Medicine, 2021

34442448 (PubMed )
Supplement: jpm-11-00804-s001.zip › jpm-1270394-supplementary.pdf

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Scott SA et al.

Clinical and Translational Science, 2021

32931151 (PubMed )
Supplement: CTS-14-204-s001.xlsx › Table_S1

CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants.

Zhang L et al.

Clinical and Translational Science, 2020

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › DPWG_Variants

Development of the PGx-Passport: A Panel of Actionable Germline Genetic Variants for Pre-Emptive Pharmacogenetic Testing.

van der Wouden CH et al.

Clinical Pharmacology and Therapeutics, 2019

31038729 (PubMed )
Supplement: CPT-106-866-s001.pdf

Recommendations for Clinical CYP2C19 Genotyping Allele Selection: A Report of the Association for Molecular Pathology.

Pratt VM et al.

The Journal of Molecular Diagnostics : Jmd, 2018

Pharmacogenomic Impact of CYP2C19 Variation on Clopidogrel Therapy in Precision Cardiovascular Medicine.

Brown SA et al.

Journal of Personalized Medicine, 2018

Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects.

Zhou Y et al.

Clinical Pharmacology and Therapeutics, 2017

Analysis of Genetic Variation in CYP450 Genes for Clinical Implementation.

Goh LL et al.

Plos One, 2017

Rapid and ultra-rapid metabolizers with CYP2C19*17 polymorphism do not respond to standard therapy with proton pump inhibitors.

Deshpande N et al.

Meta Gene, 2016

Genetic Polymorphisms and in Vitro Functional Characterization of CYP2C8, CYP2C9, and CYP2C19 Allelic Variants.

Hiratsuka M

Biological & Pharmaceutical Bulletin, 2016

Functional characterization of 21 CYP2C19 allelic variants for clopidogrel 2-oxidation.

Takahashi M et al.

The Pharmacogenomics Journal, 2015

Advances in molecular modeling of human cytochrome P450 polymorphism.

Martiny VY et al.

Journal of Molecular Biology, 2013

[Pharmacogenetics and antiepileptic drug metabolism: implication of genetic variants in cytochromes P450].

Saldaña-Cruz AM et al.

Revista De Neurologia, 2013

Allele and genotype frequencies of CYP2B6 and CYP2C19 polymorphisms in Egyptian agricultural workers.

Ellison CA et al.

Journal of Toxicology and Environmental Health. Part A, 2012

Molecular mechanisms of genetic variation and transcriptional regulation of CYP2C19.

Helsby NA et al.

Frontiers in Genetics, 2012

Polymorphic metabolism by functional alterations of human cytochrome P450 enzymes.

Lee IS et al.

Archives of Pharmacal Research, 2011

Pharmacogenomics of clopidogrel: evidence and perspectives.

Yin T et al.

Thrombosis Research, 2011

Evaluation of the effects of 18 non-synonymous single-nucleotide polymorphisms of CYP450 2C19 on in vitro drug inhibition potential by a fluorescence-based high-throughput assay.

Wang H et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2011

Evaluation of the effects of 20 nonsynonymous single nucleotide polymorphisms of CYP2C19 on S-mephenytoin 4'-hydroxylation and omeprazole 5'-hydroxylation.

Wang H et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2011

Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.

Pratt VM et al.

The Journal of Molecular Diagnostics : Jmd, 2010

Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects.

Matimba A et al.

Human Genomics, 2009

Genotyping and haplotyping of CYP2C19 functional alleles on thin-film biosensor chips.

Nakamoto K et al.

Pharmacogenetics and Genomics, 2007

The human cytochrome P450 Allele Nomenclature Committee Web site: submission criteria, procedures, and objectives.

Sim SC et al.

Methods in Molecular Biology (clifton, N.j.), 2006

Identification and functional characterization of new potentially defective alleles of human CYP2C19.

Blaisdell J et al.

Pharmacogenetics, 2002

The Human Cytochrome P450 Allele Nomenclature Committee Web Site : Submission Criteria, Procedures, and Objectives.

Sim SC et al.

Methods in Molecular Biology (clifton, N.j.), 0

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