Varaico: Literature-Extracted Genetic Variants

Gene:CYP2A6
Variant:p.R128Q
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CYP2A6

NM_000762.6:p.R128Q

Associated Papers

Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.

Prost R et al.

International Journal of Molecular Sciences, 2025

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

G-quadruplex forming sequences in the genes coding for cytochrome P450 enzymes and their potential roles in drug metabolism.

Saad M et al.

Biochimie, 2023

Deciphering Structural Alterations Associated with Activity Reductions of Genetic Polymorphisms in Cytochrome P450 2A6 Using Molecular Dynamics Simulations.

Kato K et al.

International Journal of Molecular Sciences, 2021

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

Zhou Y et al.

Clinical Pharmacology and Therapeutics, 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

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

López-Flores LA et al.

Excli Journal, 2017

Point mutation of cytochrome P450 2A6 (a polymorphic variant CYP2A6.25) confers new substrate specificity towards flavonoids.

Uno T et al.

Biopharmaceutics & Drug Disposition, 2015

Advances in molecular modeling of human cytochrome P450 polymorphism.

Martiny VY et al.

Journal of Molecular Biology, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

Cytochrome p450 metabolism of betel quid-derived compounds: implications for the development of prevention strategies for oral and pharyngeal cancers.

Lin CY et al.

Thescientificworldjournal, 2013

Polymorphic metabolism by functional alterations of human cytochrome P450 enzymes.

Lee IS et al.

Archives of Pharmacal Research, 2011

Novel and established CYP2A6 alleles impair in vivo nicotine metabolism in a population of Black African descent.

Mwenifumbo JC et al.

Human Mutation, 2008

Smoking behavior and related cancers: the role of CYP2A6 polymorphisms.

Nakajima M

Current Opinion in Molecular Therapeutics, 2007

Differences in pharmacogenetics of nicotine and alcohol metabolism: review and recommendations for future research.

Wall TL et al.

Nicotine & Tobacco Research : Official Journal of the Society for Research on Nicotine and Tobacco, 2007

Comprehensive evaluation of variability in nicotine metabolism and CYP2A6 polymorphic alleles in four ethnic populations.

Nakajima M et al.

Clinical Pharmacology and Therapeutics, 2006

Three haplotypes associated with CYP2A6 phenotypes in Caucasians.

Haberl M et al.

Pharmacogenetics and Genomics, 2005

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

Interindividual variability in nicotine metabolism: C-oxidation and glucuronidation.

Nakajima M et al.

Drug Metabolism and Pharmacokinetics, 2005

Evaluation of CYP2A6 genetic polymorphisms as determinants of smoking behavior and tobacco-related lung cancer risk in male Japanese smokers.

Fujieda M et al.

Carcinogenesis, 2004

A novel polymorphism of human CYP2A6 gene CYP2A6*17 has an amino acid substitution (V365M) that decreases enzymatic activity in vitro and in vivo.

Fukami T et al.

Clinical Pharmacology and Therapeutics, 2004

Molecular cloning, expression and functional characterization of the cytochrome P450 2A6 gene in pig liver.

Lin Z et al.

Animal Genetics, 2004

Metabolic profile of nicotine in subjects whose CYP2A6 gene is deleted.

Yamanaka H et al.

European Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences, 2004

Novel human CYP2A6 alleles confound gene deletion analysis.

Nakajima M et al.

Febs Letters, 2004

Polymorphic NF-Y dependent regulation of human nicotine C-oxidase (CYP2A6).

von Richter O et al.

Pharmacogenetics, 2004

Association of CYP2A6 deletion polymorphism with smoking habit and development of pulmonary emphysema.

Minematsu N et al.

Thorax, 2003

Effects of polymorphism in promoter region of human CYP2A6 gene (CYP2A6*9) on expression level of messenger ribonucleic acid and enzymatic activity in vivo and in vitro.

Yoshida R et al.

Clinical Pharmacology and Therapeutics, 2003

Nicotine metabolism, human drug metabolism polymorphisms, and smoking behaviour.

Tricker AR

Toxicology, 2003

Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism.

Yoshida R et al.

British Journal of Clinical Pharmacology, 2002

Interindividual differences in nicotine metabolism and genetic polymorphisms of human CYP2A6.

Nakajima M et al.

Drug Metabolism Reviews, 2002

Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity.

Oscarson M et al.

Human Mutation, 2002

Genetic polymorphisms of the human CYP2A13 gene: identification of single-nucleotide polymorphisms and functional characterization of an Arg257Cys variant.

Zhang X et al.

The Journal of Pharmacology and Experimental Therapeutics, 2002

Genetic variation in CYP2A6-mediated nicotine metabolism alters smoking behavior.

Tyndale RF et al.

Therapeutic Drug Monitoring, 2002

Genetic polymorphism of human cytochrome p450 involved in drug metabolism.

Nagata K et al.

Drug Metabolism and Pharmacokinetics, 2002

CYP2A6*6, a novel polymorphism in cytochrome p450 2A6, has a single amino acid substitution (R128Q) that inactivates enzymatic activity.

Kitagawa K et al.

The Journal of Biological Chemistry, 2001

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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."