Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.T249S
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CYP2D6

NM_000106.6:p.T249S

Associated Papers

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

Effects of 22 CYP2D6 Genetic Variations Newly Identified in Chinese Population on Olanzapine Metabolism in vitro.

Zhou HY et al.

Pharmacology, 2016

Impact of physiological, pathological and environmental factors on the expression and activity of human cytochrome P450 2D6 and implications in precision medicine.

He ZX et al.

Drug Metabolism Reviews, 2015

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

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

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

Zhou SF

Clinical Pharmacokinetics, 2009

Impaired expression of CYP2D6 in intermediate metabolizers carrying the *41 allele caused by the intronic SNP 2988G>A: evidence for modulation of splicing events.

Toscano C et al.

Pharmacogenetics and Genomics, 2006

A silent mutation (2939G>A, exon 6; CYP2D6*59) leading to impaired expression and function of CYP2D6.

Toscano C et al.

Pharmacogenetics and Genomics, 2006

A novel intronic mutation, 2988G>A, with high predictivity for impaired function of cytochrome P450 2D6 in white subjects.

Raimundo S et al.

Clinical Pharmacology and Therapeutics, 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."