Varaico: Literature-Extracted Genetic Variants

Gene:CYP2A6
Variant:p.K194E
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CYP2A6

NM_000762.6:p.K194E

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

PharmVar GeneFocus: CYP2A6.

Langlois AWR et al.

Clinical Pharmacology and Therapeutics, 2024

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

Recurrent CYP2A6 gene mutation in biphasic hyalinizing psammomatous renal cell carcinoma: Additional support of three cases.

Ding X et al.

Pathology, Research and Practice, 2023

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 › HG005_R10.4.1_AldyCalls

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

El-Boraie A et al.

Clinical and Translational Science, 2022

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

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

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

López-Flores LA et al.

Excli Journal, 2017

A Molecular Evolutionary Reference for the Human Variome.

Liu L et al.

Molecular Biology and Evolution, 2016

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP et al.

Scientific Reports, 2014

25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new

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

Polymorphic metabolism by functional alterations of human cytochrome P450 enzymes.

Lee IS et al.

Archives of Pharmacal Research, 2011

Functional characterization of cytochrome P450 2A6 allelic variants CYP2A6*15, CYP2A6*16, CYP2A6*21, and CYP2A6*22.

Tiong KH et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2010

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

Characterization of novel CYP2A6 polymorphic alleles (CYP2A6*18 and CYP2A6*19) that affect enzymatic activity.

Fukami T et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2005

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

Nakajima M et al.

Drug Metabolism and Pharmacokinetics, 2005

Novel human CYP2A6 alleles confound gene deletion analysis.

Nakajima M et al.

Febs Letters, 2004

Genetic polymorphisms in the cytochrome P450 2A6 (CYP2A6) gene: implications for interindividual differences in nicotine metabolism.

Oscarson M

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 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."