Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.F120I
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CYP2D6

NM_000106.6:p.F120I

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

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.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

Next-generation sequencing identified that RET variation associates with lymph node metastasis and the immune microenvironment in thyroid papillary carcinoma.

Huang Y et al.

Bmc Endocrine Disorders, 2024

38734621 (PubMed )
Supplement: 12902_2024_1586_MOESM2_ESM.xlsx › Genomic_data

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

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

Twesigomwe D et al.

Clinical Pharmacology and Therapeutics, 2023

36111505 (PubMed )
Supplement: CPT-113-643-s001.pdf

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

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

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 › SNU638

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

The Identification of Novel CYP2D6 Variants in US Hmong: Results From Genome Sequencing and Clinical Genotyping.

Wen YF et al.

Frontiers in Pharmacology, 2022

Computational Tools to Assess the Functional Consequences of Rare and Noncoding Pharmacogenetic Variability.

Zhou Y et al.

Clinical Pharmacology and Therapeutics, 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

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Wu SW et al.

Italian Journal of Pediatrics, 2021

34289880 (PubMed )
Supplement: 13052_2021_1112_MOESM2_ESM.xlsx › Sheet1

Toward predicting CYP2D6-mediated variable drug response from CYP2D6 gene sequencing data.

van der Lee M et al.

Science Translational Medicine, 2021

Tryptophan-75 Is a Low-Energy Channel-Gating Residue that Facilitates Substrate Egress/Access in Cytochrome P450 2D6.

McCarty KD et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 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

Deciphering Reaction Determinants of Altered-Activity CYP2D6 Variants by Well-Tempered Metadynamics Simulation and QM/MM Calculations.

Don CG et al.

Journal of Chemical Information and Modeling, 2020

Spontaneous Ligand Access Events to Membrane-Bound Cytochrome P450 2D6 Sampled at Atomic Resolution.

Fischer A et al.

Scientific Reports, 2019

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

Manoharan A et al.

Pharmacogenomics, 2019

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

CYP2D6 Allelic Variants *34, *17-2, *17-3, and *53 and a Thr309Ala Mutant Display Altered Kinetics and NADPH Coupling in Metabolism of Bufuralol and Dextromethorphan and Altered Susceptibility to Inactivation by SCH 66712.

Glass SM et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2018

ChannelsDB: database of biomacromolecular tunnels and pores.

Pravda L et al.

Nucleic Acids Research, 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

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

Zhou Y et al.

Clinical Pharmacology and Therapeutics, 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

Next-generation sequencing reveals somatic mutations that confer exceptional response to everolimus.

Lim SM et al.

Oncotarget, 2016

26859683 (PubMed )
Supplement: oncotarget-07-10547-s002.pdf

Molecular Dynamics Simulations to Investigate the Influences of Amino Acid Mutations on Protein Three-Dimensional Structures of Cytochrome P450 2D6.1, 2, 10, 14A, 51, and 62.

Fukuyoshi S et al.

Plos One, 2016

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Couthouis J et al.

Plos Genetics, 2014

25299611 (PubMed )
Supplement: pgen.1004704.s004.xlsx › Sheet1

Molecular dynamics of CYP2D6 polymorphisms in the absence and presence of a mechanism-based inactivator reveals changes in local flexibility and dominant substrate access channels.

de Waal PW et al.

Plos One, 2014

Advances in molecular modeling of human cytochrome P450 polymorphism.

Martiny VY et al.

Journal of Molecular Biology, 2013

Polymorphisms and phenotypic analysis of cytochrome P450 2D6 in the Tibetan population.

Jin TB et al.

Gene, 2013

Ligand- and protein-based modeling studies of the inhibitors of human cytochrome P450 2D6 and a virtual screening for potential inhibitors from the Chinese herbal medicine, Scutellaria baicalensis (Huangqin,Baikal Skullcap).

Mo SL et al.

Combinatorial Chemistry & High Throughput Screening, 2012

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

Niwa T et al.

Current Drug Metabolism, 2011

Discovery of novel functional variants and extensive evaluation of CYP2D6 genetic polymorphisms in Koreans.

Lee SJ et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2009

Two novel CYP2D6*10 haplotypes as possible causes of a poor metabolic phenotype in Japanese.

Matsunaga M et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2009

New insights into the structural characteristics and functional relevance of the human cytochrome P450 2D6 enzyme.

Wang B et al.

Drug Metabolism Reviews, 2009

Polymorphism of human cytochrome P450 2D6 and its clinical significance: Part I.

Zhou SF

Clinical Pharmacokinetics, 2009

Functional characterization of 17 CYP2D6 allelic variants (CYP2D6.2, 10, 14A-B, 18, 27, 36, 39, 47-51, 53-55, and 57).

Sakuyama K et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2008

Insights into drug metabolism by cytochromes P450 from modelling studies of CYP2D6-drug interactions.

Maréchal JD et al.

British Journal of Pharmacology, 2008

Novel nonsynonymous single nucleotide polymorphisms in the CYP2D6 gene.

Soyama A et al.

Drug Metabolism and Pharmacokinetics, 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."