Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.R259delFs
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CYP2D6

NM_000106.6:p.R259delFs

Associated Papers

Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6.

Krebs K et al.

Npj Genomic Medicine, 2026

41549095 (PubMed )
Supplement: 41525_2025_549_MOESM2_ESM.xlsx › Supplementary_Data_8

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

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

Meta-analysis of genomic variants in power and endurance sports to decode the impact of genomics on athletic performance and success.

Psatha A et al.

Human Genomics, 2024

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

Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.

Guo F et al.

Human Mutation, 2024

40225944 (PubMed )
Supplement: 9115364.f1.pdf

Metabolic ratios and SNPs implicated in tramadol-related deaths.

Aly SM et al.

International Journal of Legal Medicine, 2023

Development of Novel Mass Spectrum-Based Assay for Simultaneous Detection of 36 Variants in the 14 Pharmacogenetic Genes for the Japanese Population.

Yamamoto N et al.

Biological & Pharmaceutical Bulletin, 2023

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › cancer_driver

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone).

Matic M et al.

European Journal of Human Genetics : Ejhg, 2022

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Grunseich C et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

34103343 (PubMed )
Supplement: jnnp-2020-325437supp002.pdf

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

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Yu MHC et al.

Plos Genetics, 2021

33600428 (PubMed )
Supplement: pgen.1009323.s003.xlsx › ___1

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

Clinical Utility of Pharmacogene Panel-Based Testing in Patients Undergoing Percutaneous Coronary Intervention.

El Rouby N 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

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Drug_response

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome.

Eghbali M et al.

Frontiers in Genetics, 2020

CYP2D6 Pharmacogenetics Testing and Post-Cesarean Section Pain Scores-a Preliminary Study.

Ribeiro C et al.

Pain Medicine (malden, Mass.), 2019

Feasibility of Integrating Panel-Based Pharmacogenomics Testing for Chemotherapy and Supportive Care in Patients With Colorectal Cancer.

Kasi PM et al.

Technology in Cancer Research & Treatment, 2019

31533552 (PubMed )
Supplement: OneOme_sample_comprehensive_report.pdf

CYP2D6 allele frequencies, copy number variants, and tandems in the population of Hong Kong.

Chan W et al.

Journal of Clinical Laboratory Analysis, 2019

Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.

Hočevar K et al.

Frontiers in Pharmacology, 2019

Effects of cytochrome P450 single nucleotide polymorphisms on methadone metabolism and pharmacodynamics.

Ahmad T et al.

Biochemical Pharmacology, 2018

The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Muscat AM et al.

Oncotarget, 2018

29487696 (PubMed )
Supplement: oncotarget-09-7844-s003.xlsx › Supplementary_Table_S2

Combined Effect of CYP2B6 Genotype and Other Candidate Genes on a Steady-State Serum Concentration of Methadone in Opioid Maintenance Treatment.

Kringen MK et al.

Therapeutic Drug Monitoring, 2017

Genotypes Affecting the Pharmacokinetics of Anticancer Drugs.

Bertholee D et al.

Clinical Pharmacokinetics, 2017

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Ng D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27537706 (PubMed )
Supplement: NIHMS802548-supplement-Table_S4.pdf

Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing.

Buermans HP et al.

Human Mutation, 2017

28044414 (PubMed )
Supplement: HUMU-38-310-s004.xlsx › Sup_Table_3

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Johansen CT et al.

Journal of Lipid Research, 2014

24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf

High prevalence of CYP2D6*41 (G2988A) allele in Saudi Arabians.

Al-Dosari MS et al.

Environmental Toxicology and Pharmacology, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."