Varaico: Literature-Extracted Genetic Variants

Gene:CYP2A6
Variant:p.L160H
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CYP2A6

NM_000762.6:p.L160H

Associated Papers

Rare coding variants in CHRNB3 associate with reduced daily cigarette smoking across ancestries.

Rajagopal VM et al.

Nature Communications, 2026

PharmVar GeneFocus: CYP2A6.

Langlois AWR et al.

Clinical Pharmacology and Therapeutics, 2024

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Ethnic Aspects of Valproic Acid P-Oxidation.

Shnayder NA et al.

Biomedicines, 2024

Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.

Zhang T et al.

Peerj, 2024

39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT

Mining of molecular insights of CYP2A6 and its variants complex with coumarin (CYP2A6*-coumarin) using molecular dynamics simulation.

Yadav A et al.

Journal of Biomolecular Structure & Dynamics, 2023

Human Cytochrome P450 1, 2, 3 Families as Pharmacogenes with Emphases on Their Antimalarial and Antituberculosis Drugs and Prevalent African Alleles.

Chamboko CR et al.

International Journal of Molecular Sciences, 2023

36834793 (PubMed )
Supplement: ijms-24-03383-s001.zip › ijms-2130595-supplementary.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

Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.

El-Boraie A et al.

Clinical and Translational Science, 2022

CYP2A6 and GABRA2 Gene Polymorphisms are Associated With Dexmedetomidine Drug Response.

Fang C et al.

Frontiers in Pharmacology, 2022

Association between gene polymorphisms in the cyclophosphamide metabolism pathway with complications after haploidentical hematopoietic stem cell transplantation.

Muñiz P et al.

Frontiers in Immunology, 2022

36211438 (PubMed )
Supplement: Table_1.xlsx › Hoja1

Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.

Pandey K et al.

Genes, 2021

Evaluation of a weighted genetic risk score for the prediction of biomarkers of CYP2A6 activity.

El-Boraie A et al.

Addiction Biology, 2020

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Calvete O et al.

Journal of the American Heart Association, 2019

Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.

Zhang C et al.

Molecular Genetics & Genomic Medicine, 2019

The potential role of pharmacogenomics and biotransformation in hypersensitivity reactions to paracetamol.

Agúndez JAG et al.

Current Opinion in Allergy and Clinical Immunology, 2018

Pharmacogenomics in Papua New Guineans: unique profiles and implications for enhancing drug efficacy while improving drug safety.

Tucci JD et al.

Pharmacogenetics and Genomics, 2018

Functional characterization of 9 CYP2A13 allelic variants by assessment of nicotine C-oxidation and coumarin 7-hydroxylation.

Kumondai M et al.

Drug Metabolism and Pharmacokinetics, 2018

An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Zhao J et al.

Genome Medicine, 2018

29378629 (PubMed )
Supplement: 13073_2018_513_MOESM4_ESM.xlsx › Sheet1

Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Friedman D et al.

Npj Genomic Medicine, 2018

29619247 (PubMed )
Supplement: 41525_2018_48_MOESM2_ESM.xlsx › gnomAD_analysis

Variation in CYP2A6 Activity and Personalized Medicine.

Tanner JA et al.

Journal of Personalized Medicine, 2017

Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects.

Zhou Y et al.

Clinical Pharmacology and Therapeutics, 2017

Genetic polymorphisms in CYP2A6 are associated with a risk of cigarette smoking and predispose to smoking at younger ages.

Pérez-Rubio G et al.

Gene, 2017

Functional Characterization of 34 CYP2A6 Allelic Variants by Assessment of Nicotine C-Oxidation and Coumarin 7-Hydroxylation Activities.

Hosono H et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2017

Characterization of ADME gene variation in 21 populations by exome sequencing.

Hovelson DH et al.

Pharmacogenetics and Genomics, 2017

27984508 (PubMed )
Supplement: fpc-27-089-s004.xlsx › CorePharmADME.VariantDepthStats

Whole exome sequencing detects variants of genes that mediate response to anticancer drugs.

Ohnami S et al.

The Journal of Toxicological Sciences, 2017

Distribution of polymorphic variants of CYP2A6 and their involvement in nicotine addiction.

López-Flores LA et al.

Excli Journal, 2017

Application of a pharmacokinetic/pharmacogenetic approach to assess the nicotine metabolic profile of smokers in the real-life setting.

Fogli S et al.

Journal of Pharmaceutical and Biomedical Analysis, 2016

Genetic polymorphisms study of pharmacogenomic VIP variants in Han ethnic of China's Shaanxi province.

Jin T et al.

Environmental Toxicology and Pharmacology, 2016

Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.

Jin T et al.

Bmc Genetics, 2016

CYP2A6 Longitudinal Effects in Young Smokers.

Cannon DS et al.

Nicotine & Tobacco Research : Official Journal of the Society for Research on Nicotine and Tobacco, 2016

Comparison of genetic variation in drug ADME-related genes in Thais with Caucasian, African and Asian HapMap populations.

Jittikoon J et al.

Journal of Human Genetics, 2016

The population genetics of pharmacogenomics VIP variants in the Sherpa population.

Wang L et al.

Drug Metabolism and Pharmacokinetics, 2016

Genetic Polymorphisms Analysis of Pharmacogenomic VIP Variants in Miao Ethnic Group of Southwest China.

Jin T et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2015

Genetic polymorphisms in very important pharmacogenomic (VIP) variants in the Tibetan population.

Jin TB et al.

Genetics and Molecular Research : Gmr, 2015

Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.

Wang L et al.

Bmc Genetics, 2015

Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.

John SE et al.

Genomics Data, 2015

Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, Prospective Abstinence, and Cigarette Consumption.

Bergen AW et al.

Plos One, 2015

Genetic polymorphism of pharmacogenomic VIP variants in the Deng people from the Himalayas in Southeast Tibet.

Shi X et al.

Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2015

A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism.

Loukola A et al.

Plos Genetics, 2015

Korean, Japanese, and Chinese populations featured similar genes encoding drug-metabolizing enzymes and transporters: a DMET Plus microarray assessment.

Yi S et al.

Pharmacogenetics and Genomics, 2014

Beyond cigarettes per day. A genome-wide association study of the biomarker carbon monoxide.

Bloom AJ et al.

Annals of the American Thoracic Society, 2014

Disease variants in genomes of 44 centenarians.

Freudenberg-Hua Y et al.

Molecular Genetics & Genomic Medicine, 2014

25333069 (PubMed )
Supplement: mgg30002-0438-SD2.pdf

High CYP2A6 enzyme activity as measured by a caffeine test and unique distribution of CYP2A6 variant alleles in Ethiopian population.

Aklillu E et al.

Omics : a Journal of Integrative Biology, 2014

Distribution of genetic polymorphisms of genes encoding drug metabolizing enzymes & drug transporters - a review with Indian perspective.

Umamaheswaran G et al.

The Indian Journal of Medical Research, 2014

Inhibitory potency of 8-methoxypsoralen on cytochrome P450 2A6 (CYP2A6) allelic variants CYP2A6 15, CYP2A6 16, CYP2A6 21 and CYP2A6 22: differential susceptibility due to different sequence locations of the mutations.

Tiong KH et al.

Plos One, 2014

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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."