Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.R441C
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CYP2D6

NM_000106.6:p.R441C

Associated Papers

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

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

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

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

Benchmarking analysis of deleterious SNP prediction tools on CYP2D6 enzyme.

Ferreira KCDV et al.

Chemical Biology & Drug Design, 2020

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

Pharmacogenetic testing revisited: 5' nuclease real-time polymerase chain reaction test panels for genotyping CYP2D6 and CYP2C19.

Larsen JB et al.

Pharmacogenomics and Personalized Medicine, 2017

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

In vitro assessment of the allelic variants of cytochrome P450.

Hiratsuka M

Drug Metabolism and Pharmacokinetics, 2012

Pharmacogenomics of CYP2D6: molecular genetics, interethnic differences and clinical importance.

Teh LK et al.

Drug Metabolism and Pharmacokinetics, 2012

Polymorphic metabolism by functional alterations of human cytochrome P450 enzymes.

Lee IS et al.

Archives of Pharmacal Research, 2011

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

A natural variant of the heme-binding signature (R441C) resulting in complete loss of function of CYP2D6.

Klein K et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2007

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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."