Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.R296C
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CYP2D6

NM_000106.6:p.R296C

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

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

Pharmacogenetic pilot study of CYP2D6 and CYP1A2 genes in Italian patients with non-dystrophic myotonia and myotonic dystrophy treated with mexiletine.

Brugnoni R et al.

Gene, 2025

Improved Prediction of CYP2D6 Catalyzed Drug Metabolism by Taking Variant Substrate Specificities and Novel Polymorphic Haplotypes into Account.

Johansson I et al.

Clinical Pharmacology and Therapeutics, 2025

Contrastive sequence signatures between the both sides of a recombination spot reveal an adaptation at PPARD locus from standing variation for pleiotropy since out-of-Africa dispersal.

Shou W et al.

Bmc Genomics, 2025

40307732 (PubMed )
Supplement: 12864_2025_11620_MOESM2_ESM.xlsx › TS4

The impact of CYP2D6 on donepezil concentration and its lack of effect on the treatment response and adverse effect in Korean patients with Alzheimer's disease.

Kim TE et al.

The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2025

In vitro comparative analysis of metabolic capabilities and inhibitory profiles of selected CYP2D6 alleles on tramadol metabolism.

Nahid NA et al.

Clinical and Translational Science, 2025

PharmFreq: a comprehensive atlas of ethnogeographic allelic variation in clinically important pharmacogenes.

Tremmel R et al.

Nucleic Acids Research, 2025

Value of Pharmacogenetic Testing Assessed with Real-World Drug Utilization and Genotype Data.

Litonius K et al.

Clinical Pharmacology and Therapeutics, 2025

39365028 (PubMed )
Supplement: CPT-117-278-s001.pdf

Catalogue of Somatic Mutations in Cancer Database and Structural Modeling Analysis of CYP2D6 Mutations in Human Cancers.

Kuchinski K et al.

The Journal of Pharmacology and Experimental Therapeutics, 2024

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP2C19 and non-SSRI/non-TCA antidepressants.

Beunk L et al.

European Journal of Human Genetics : Ejhg, 2024

Loss of heterozygosity of CYP2D6 enhances the sensitivity of hepatocellular carcinomas to talazoparib.

Zhang X et al.

Ebiomedicine, 2024

39368455 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Molecular Mechanisms Underlying Single Nucleotide Polymorphism-Induced Reactivity Decrease in CYP2D6.

Becker D et al.

Journal of Chemical Information and Modeling, 2024

The Frequency of CYP2D6 and CYP3A4/5 Genotypes and The Impact of Their Allele Translation and Phenoconversion-Predicted Enzyme Activity on Risperidone Pharmacokinetics in Saudi Children with Autism.

Shilbayeh SAR et al.

Biochemical Genetics, 2024

The variation landscape of CYP2D6 in a multi-ethnic Asian population.

Maulana Y et al.

Scientific Reports, 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

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics.

Beunk L et al.

European Journal of Human Genetics : Ejhg, 2024

Leveraging in Vitro Models for Clinically Relevant Rare CYP2D6 Variants in Pharmacogenomics.

Stern S et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2024

Stimulatory and Inhibitory Effect of Antipsychotic Agents Including Dopaminergic Neuro-depressants on Dopamine Formation from p-tyramine Mediated by Cytochrome P450 2D6.

Niwa T et al.

Drug Metabolism and Bioanalysis Letters, 2024

[Metabolic Activities Catalyzed by Human Cytochrome P450 (CYP) 2D6 and CYP3A Subfamily Members and Effect of Various Compounds, Including Endogenous Steroid Hormones, on These Activities].

Niwa T

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 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

Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction of CYP2D6 and COMT with atomoxetine and methylphenidate.

Nijenhuis M et al.

European Journal of Human Genetics : Ejhg, 2023

Using population pharmacokinetic analyses of drugs metabolized by CYP2D6 to study the genotype-phenotype translation.

Frederiksen T

Basic & Clinical Pharmacology & Toxicology, 2023

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.

Balciuniene J et al.

Jama Network Open, 2023

37523181 (PubMed )
Supplement: jamanetwopen-e2326445-s001.pdf

Determination of the Duplicated CYP2D6 Allele Using Real-Time PCR Signal: An Alternative Approach.

Atiq MA et al.

Journal of Personalized Medicine, 2023

Characterization of CYP2D6 Pharmacogenetic Variation in Sub-Saharan African Populations.

Twesigomwe D et al.

Clinical Pharmacology and Therapeutics, 2023

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Magallón-Lorenz M et al.

Iscience, 2023

36818284 (PubMed )
Supplement: mmc2.xlsx › S462

Human Cytochrome P450 1, 2, 3 Families as Pharmacogenes with Emphases on Their Antimalarial and Antituberculosis Drugs and Prevalent African Alleles.

Chamboko CR et al.

International Journal of Molecular Sciences, 2023

36834793 (PubMed )
Supplement: ijms-24-03383-s001.zip › ijms-2130595-supplementary.pdf

Estimating the In Vivo Function of CYP2D6 Alleles through Population Pharmacokinetic Modeling of Brexpiprazole.

Frederiksen T et al.

Clinical Pharmacology and Therapeutics, 2023

Computational pharmacogenotype extraction from clinical next-generation sequencing.

Shugg T et al.

Frontiers in Oncology, 2023

A frequent CYP2D6 variant promotes skipping of exon 3 and reduces CYP2D6 protein expression in human liver samples.

Collins JM et al.

Frontiers in Pharmacology, 2023

Targeted haplotyping in pharmacogenomics using Oxford Nanopore Technologies' adaptive sampling.

Deserranno K et al.

Frontiers in Pharmacology, 2023

38026945 (PubMed )
Supplement: DataSheet1.ZIP › SupplementaryMaterials › SupplementaryMaterials_Tables_S4-S9.xlsx › HG002_R10.4.1_AldyCalls

CYP2D6 and CYP2C19 Genes Associated with Tricontinental and Latin American Ancestry of Pe-ruvians.

Alvarado AT et al.

Drug Metabolism and Bioanalysis Letters, 2022

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

The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

Zhou Y et al.

The Pharmacogenomics Journal, 2022

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

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs.

Brouwer JMJL et al.

European Journal of Human Genetics : Ejhg, 2022

Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations.

Wang WY et al.

Journal of Personalized Medicine, 2022

Effect of Human Cytochrome P450 2D6 Polymorphism on Progesterone Hydroxylation.

Niwa T et al.

European Journal of Drug Metabolism and Pharmacokinetics, 2022

The potential impact of CYP2D6 (*2/*4/*10) gene variants among Egyptian epileptic children: A preliminary study.

Elsaid AM et al.

Gene, 2022

Folate Related Pathway Gene Analysis Reveals a Novel Metabolic Variant Associated with Alzheimer's Disease with a Change in Metabolic Profile.

Miyan J et al.

Metabolites, 2022

35736408 (PubMed )
Supplement: metabolites-12-00475-s001.zip › metabolites-1734324-supplementary.pdf

Transgenic HepaRG cells expressing CYP2D6 as an improved model of primary human hepatocytes.

Okuyama S et al.

Pharmacology Research & Perspectives, 2022

Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Tayeh MK et al.

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

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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."