Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.R365H
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CYP2D6

NM_000106.6:p.R365H

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

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

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

Avsar O

Nucleosides, Nucleotides & Nucleic Acids, 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

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

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity.

Dalton R et al.

Clinical and Translational Science, 2020

A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions.

Calderon-Ospina CA et al.

Pharmacogenomics and Personalized Medicine, 2020

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Calvete O et al.

Journal of the American Heart Association, 2019

Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

Tasa T et al.

European Journal of Human Genetics : Ejhg, 2019

Supervised Classification of CYP2D6 Genotype and Metabolizer Phenotype With Postmortem Tramadol-Exposed Finns.

Wendt FR et al.

The American Journal of Forensic Medicine and Pathology, 2019

An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Zhao J et al.

Genome Medicine, 2018

Polymorphisms in XRCC1, ERCC2, and ERCC3 DNA repair genes, CYP1A1 xenobiotic metabolism gene, and tobacco are associated with bladder cancer susceptibility in Tunisian population.

Feki-Tounsi M et al.

Environmental Science and Pollution Research International, 2017

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

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Lu C et al.

Cold Spring Harbor Molecular Case Studies, 2016

27148581 (PubMed )
Supplement: supp_2.1.a000687_Supp_Table_2.xlsx › germline.missense

Inter-ethnic differences in genetic polymorphisms of xenobiotic-metabolizing enzymes (CYP1A1, CYP2D6, NAT1 and NAT2) in healthy populations: correlation with the functional in silico prediction.

Khlifi R et al.

Molecular Biology Reports, 2014

Association of CYP1A1 and CYP2D6 gene polymorphisms with head and neck cancer in Tunisian patients.

Khlifi R et al.

Molecular Biology Reports, 2014

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

Genetic Polymorphism of Head and Neck Cancers in African Populations: A Systematic Review.

Okoturo E et al.

Oto Open, 0

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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."