Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.E278K
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CYP2D6

NM_000106.6:p.E278K

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

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK14_het

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

Maulana Y et al.

Scientific Reports, 2024

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

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Kumar K et al.

Bmc Medical Genetics, 2020

32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1

Resequencing CYP2D6 gene in Indian population: CYP2D6*41 identified as the major reduced function allele.

Manoharan A et al.

Pharmacogenomics, 2019

Single nucleotide and structural variants of CYP2D6 gene in Kinh Vietnamese population.

Nguyen HH et al.

Medicine, 2019

Genetic polymorphisms analysis of CYP2D6 in the Uygur population.

He X et al.

Bmc Genomics, 2016

High prevalence of CYP2D6*41 (G2988A) allele in Saudi Arabians.

Al-Dosari MS et al.

Environmental Toxicology and Pharmacology, 2013

Pharmacogenetics in American Indian populations: analysis of CYP2D6, CYP3A4, CYP3A5, and CYP2C9 in the Confederated Salish and Kootenai Tribes.

Fohner A et al.

Pharmacogenetics and Genomics, 2013

Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study.

Dodgen TM et al.

Bmc Medical Genetics, 2013

Identification of new alleles and the determination of alleles and genotypes frequencies at the CYP2D6 gene in Emiratis.

Qumsieh RY et al.

Plos One, 2011

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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."