Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.P325L
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CYP2D6

NM_000106.6:p.P325L

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

The variation landscape of CYP2D6 in a multi-ethnic Asian population.

Maulana Y et al.

Scientific Reports, 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

Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Parada-Márquez JF et al.

Frontiers in Pharmacology, 2023

37021041 (PubMed )
Supplement: Table2.xlsx › Hoja1

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

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

Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Silgado-Guzmán DF et al.

Frontiers in Pharmacology, 2022

35846994 (PubMed )
Supplement: Table3.xlsx › Hoja1

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › In_House_LOF

Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Su D et al.

Nature Communications, 2019

31700061 (PubMed )
Supplement: 41467_2019_12846_MOESM21_ESM.xlsx › PDX_Mutations

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

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

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

Jin TB et al.

Gene, 2013

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

A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of non-small cell lung cancer in smokers.

Zienolddiny S et al.

Carcinogenesis, 2008

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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."