Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.R28C
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CYP2D6

NM_000106.6:p.R28C

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

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

Becker D et al.

Journal of Chemical Information and Modeling, 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_MOESM2_ESM.xlsx › Sheet1

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

36068297 (PubMed )
Supplement: 41397_2022_288_MOESM4_ESM.xlsx › Sheet1

Single Nucleotide Polymorphism Induces Divergent Dynamic Patterns in CYP3A5: A Microsecond Scale Biomolecular Simulation of Variants Identified in Sub-Saharan African Populations.

Othman H et al.

International Journal of Molecular Sciences, 2021

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

Hongkaew Y et al.

Pharmacogenomics, 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

Benchmarking analysis of deleterious SNP prediction tools on CYP2D6 enzyme.

Ferreira KCDV et al.

Chemical Biology & Drug Design, 2020

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

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

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

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

Fonseca S et al.

Forensic Science International, 2016

Polymorphic metabolism by functional alterations of human cytochrome P450 enzymes.

Lee IS et al.

Archives of Pharmacal Research, 2011

Pharmacogenomics of CYP3A: considerations for HIV treatment.

Lakhman SS et al.

Pharmacogenomics, 2009

Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects.

Matimba A et al.

Human Genomics, 2009

Toward individualized treatment: prediction of anticancer drug disposition and toxicity with pharmacogenetics.

Deeken JF et al.

Anti-cancer Drugs, 2007

The high prevalence of the poor and ultrarapid metabolite alleles of CYP2D6, CYP2C9, CYP2C19, CYP3A4, and CYP3A5 in Taiwanese population.

Liou YH et al.

Journal of Human Genetics, 2006

Characterization of cytochrome P450 2D6 alleles using the Invader system.

Nevilie M et al.

Biotechniques, 2002

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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."