Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.H94R
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CYP2D6

NM_000106.6:p.H94R

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

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

Maulana Y et al.

Scientific Reports, 2024

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

Twesigomwe D et al.

Clinical Pharmacology and Therapeutics, 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 › HG00190_R10.4.1_AldyCalls

Recognition of functional genetic polymorphism using ESE motif definition: a conservative evolutionary approach to CYP2D6/CYP2C19 gene variants.

Samadi M et al.

Genetica, 2022

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

Wang WY et al.

Journal of Personalized Medicine, 2022

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › Hs746T

PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus.

Charnaud S et al.

Communications Biology, 2022

35217695 (PubMed )
Supplement: 42003_2022_3102_MOESM4_ESM.xlsx › SD5

Prediction of the CYP2D6 enzymatic activity based on investigating of the CYP2D6 genotypes around the vivax malaria patients in Yunnan Province, China.

Dong Y et al.

Malaria Journal, 2021

The association of CYP2D6 gene polymorphisms in the full-length coding region with higher recurrence rate of vivax malaria in Yunnan Province, China.

Huang H et al.

Malaria Journal, 2021

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Resequencing CYP2D6 gene in Indian population: CYP2D6*41 identified as the major reduced function allele.

Manoharan A et al.

Pharmacogenomics, 2019

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

Molecular Dynamics Simulations Reveal Structural Differences among Allelic Variants of Membrane-Anchored Cytochrome P450 2D6.

Fischer A et al.

Journal of Chemical Information and Modeling, 2018

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

Ahmad T et al.

Biochemical Pharmacology, 2018

Microsecond MD simulations of human CYP2D6 wild-type and five allelic variants reveal mechanistic insights on the function.

Don CG et al.

Plos One, 2018

Inference of the Genetic Polymorphisms of CYP2D6 in Six Subtribes of the Malaysian Orang Asli from Whole-Genome Sequencing Data.

Yu CY et al.

Genetic Testing and Molecular Biomarkers, 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

CYP2D6 polymorphisms may predict occurrence of adverse effects to tamoxifen: a preliminary retrospective study.

Wickramage I et al.

Breast Cancer (dove Medical Press), 2017

Genetic polymorphisms analysis of CYP2D6 in the Uygur population.

He X et al.

Bmc Genomics, 2016

Role of cytochrome P450 genes in breast cancer etiology and treatment: effects on estrogen biosynthesis, metabolism, and response to endocrine therapy.

Blackburn HL et al.

Cancer Causes & Control : Ccc, 2015

Genetic factors affecting statin concentrations and subsequent myopathy: a HuGENet systematic review.

Canestaro WJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Egan JB et al.

Plos One, 2014

24505276 (PubMed )
Supplement: pone.0087113.s004.xls › Table_S3

Pharmacogenetics in American Indian populations: analysis of CYP2D6, CYP3A4, CYP3A5, and CYP2C9 in the Confederated Salish and Kootenai Tribes.

Fohner A et al.

Pharmacogenetics and Genomics, 2013

Elucidation of CYP2D6 genetic diversity in a unique African population: implications for the future application of pharmacogenetics in the Xhosa population.

Wright GE et al.

Annals of Human Genetics, 2010

Identification of genetic variants of human cytochrome P450 2D6 with impaired mitochondrial targeting.

Sangar MC et al.

Molecular Genetics and Metabolism, 2010

Identification of a novel non-functional CYP2D6 allele, CYP2D6*69, in a Caucasian poor metabolizer individual.

Gaedigk A et al.

European Journal of Clinical Pharmacology, 2009

Genotyping panel for assessing response to cancer chemotherapy.

Dai Z et al.

Bmc Medical Genomics, 2008

18547414 (PubMed )
Supplement: 1755-8794-1-24-S1.xls › SNPs_selected_for_SNPlex_design

Identification and characterization of CYP2D6*56B, an allele associated with the poor metabolizer phenotype.

Gaedigk A et al.

Clinical Pharmacology and Therapeutics, 2007

A database of single-nucleotide polymorphisms and a genotyping microarray for genetic epidemiology of lung cancer.

Landi S et al.

Experimental Lung Research, 2005

Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry.

Zanger UM et al.

Naunyn-schmiedeberg's Archives of Pharmacology, 2004

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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."