Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.G42R
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CYP2D6

NM_000106.6:p.G42R

Associated Papers

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

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

Identification of the effects of pathogenic genetic variations of human CYP2C9 and CYP2D6: an in silico approach.

Avsar O

Nucleosides, Nucleotides & Nucleic Acids, 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

Pharmacokinetics of Tamoxifen and Its Major Metabolites and the Effect of the African Ancestry Specific CYP2D6*17 Variant on the Formation of the Active Metabolite, Endoxifen.

Kanji CR et al.

Journal of Personalized Medicine, 2023

36836506 (PubMed )
Supplement: jpm-13-00272-s001.zip › jpm-2113778-supplementary.pdf

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

CYP2D6 gene resequencing in the Malagasy, a population at the crossroads between Asia and Africa: a pilot study.

Chan ER et al.

Pharmacogenomics, 2022

35230160 (PubMed )
Supplement: pgs-23-315-s1.xlsx › Sheet1

CYP2D6 genetic variation in Ugandans.

Miura J et al.

European Journal of Clinical Pharmacology, 2022

Metabolomics reveals biomarkers in human urine and plasma to predict cytochrome P450 2D6 (CYP2D6) activity.

Magliocco G et al.

British Journal of Pharmacology, 2021

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

Resolving discordant CYP2D6 genotyping results in Thai subjects: platform limitations and novel haplotypes.

Hongkaew Y et al.

Pharmacogenomics, 2021

Association of CYP2D6 genotype and tamoxifen metabolites with breast cancer recurrence in a low-dose trial.

DeCensi A et al.

Npj Breast Cancer, 2021

Relationship between CYP2D6 genotype, activity score and phenotype in a pediatric Thai population treated with risperidone.

Hongkaew Y et al.

Scientific Reports, 2021

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

Benchmarking analysis of deleterious SNP prediction tools on CYP2D6 enzyme.

Ferreira KCDV et al.

Chemical Biology & Drug Design, 2020

An Explorative Study of CYP2D6's Polymorphism in a Sample of Chronic Pain Patients.

Fanelli A et al.

Pain Medicine (malden, Mass.), 2020

CYP2D6 Predicts Plasma Donepezil Concentrations in a Cohort of Thai Patients with Mild to Moderate Dementia.

Chamnanphon M et al.

Pharmacogenomics and Personalized Medicine, 2020

Dynamic Effects of CYP2D6 Genetic Variants in a Set of Poor Metaboliser Patients with Infiltrating Ductal Cancer Under Treatment with Tamoxifen.

Ariza Márquez YV et al.

Scientific Reports, 2019

30792473 (PubMed )
Supplement: 41598_2018_38340_MOESM6_ESM.xlsx › CYP2D6

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

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

Zhou Y et al.

Clinical Pharmacology and Therapeutics, 2017

In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report.

Gaedigk A et al.

Pharmacogenomics, 2017

Validation of an Extensive CYP2D6 Assay Panel Based on Invader and TaqMan Copy Number Assays.

Leung EKY et al.

The Journal of Applied Laboratory Medicine, 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

Characterization of ADME gene variation in 21 populations by exome sequencing.

Hovelson DH et al.

Pharmacogenetics and Genomics, 2017

27984508 (PubMed )
Supplement: fpc-27-089-s004.xlsx › CorePharmADME.VariantDepthStats

Pharmacogenetic testing revisited: 5' nuclease real-time polymerase chain reaction test panels for genotyping CYP2D6 and CYP2C19.

Larsen JB et al.

Pharmacogenomics and Personalized Medicine, 2017

Sequencing CYP2D6 for the detection of poor-metabolizers in post-mortem blood samples with tramadol.

Fonseca S et al.

Forensic Science International, 2016

A pooled analysis of CYP2D6 genotype in breast cancer prevention trials of low-dose tamoxifen.

Johansson H et al.

Breast Cancer Research and Treatment, 2016

Detection of CYP2D6 polymorphism using Luminex xTAG technology in autism spectrum disorder: CYP2D6 activity score and its association with risperidone levels.

Vanwong N et al.

Drug Metabolism and Pharmacokinetics, 2016

Impact of physiological, pathological and environmental factors on the expression and activity of human cytochrome P450 2D6 and implications in precision medicine.

He ZX et al.

Drug Metabolism Reviews, 2015

CYP2D7 Sequence Variation Interferes with TaqMan CYP2D6 (*) 15 and (*) 35 Genotyping.

Riffel AK et al.

Frontiers in Pharmacology, 2015

Establishment of CYP2D6 reference samples by multiple validated genotyping platforms.

Fang H et al.

The Pharmacogenomics Journal, 2014

Pharmacogenetic workup of perioperative serotonin syndrome.

Beatty NC et al.

Journal of Clinical Anesthesia, 2013

Cytochrome P450 2D6 polymorphisms and predicted opioid metabolism in African American children with sickle cell disease.

Yee MM et al.

Journal of Pediatric Hematology/oncology, 2013

Complexities of CYP2D6 gene analysis and interpretation.

Gaedigk A

International Review of Psychiatry (abingdon, England), 2013

A randomized phase II presurgical trial of weekly low-dose tamoxifen versus raloxifene versus placebo in premenopausal women with estrogen receptor-positive breast cancer.

Serrano D et al.

Breast Cancer Research : Bcr, 2013

Length of psychiatric hospitalization is correlated with CYP2D6 functional status in inpatients with major depressive disorder.

Ruaño G et al.

Biomarkers in Medicine, 2013

The relative timing of mutations in a breast cancer genome.

Newman S et al.

Plos One, 2013

23762276 (PubMed )
Supplement: pone.0064991.s002.xls › 6._Sequence-level_mutations

Endoxifen levels and its association with CYP2D6 genotype and phenotype: evaluation of a southern Brazilian population under tamoxifen pharmacotherapy.

Antunes MV et al.

Therapeutic Drug Monitoring, 2012

Frequency of undetected CYP2D6 hybrid genes in clinical samples: impact on phenotype prediction.

Black JL et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2012

Polymorphic metabolism by functional alterations of human cytochrome P450 enzymes.

Lee IS et al.

Archives of Pharmacal Research, 2011

Comparison of cytochrome P450 2D6 and variants in terms of drug oxidation rates and substrate inhibition.

Niwa T et al.

Current Drug Metabolism, 2011

Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients.

Lim JS et al.

British Journal of Clinical Pharmacology, 2011

Should CYP2D6 inhibitors be administered in conjunction with tamoxifen?

Zembutsu H et al.

Expert Review of Anticancer Therapy, 2011

Genetic analysis of the rhabdomyolysis-associated genes in forensic autopsy cases of methamphetamine abusers.

Matsusue A et al.

Legal Medicine (tokyo, Japan), 2011

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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."