Varaico: Literature-Extracted Genetic Variants

Gene:CYP2A6
Variant:p.D158E
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CYP2A6

NM_000762.6:p.D158E

Associated Papers

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

Wong K et al.

Nature Communications, 2025

40389436 (PubMed )
Supplement: 41467_2025_59871_MOESM4_ESM.xlsx › Supp._Data_2b_-_BCAC

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

El-Boraie A et al.

Clinical and Translational Science, 2022

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s011.xlsx › Sheet1

APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Roper N et al.

Cell Reports, 2019

30840888 (PubMed )
Supplement: NIHMS1523294-supplement-6.xlsx › RA004

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S7_CHC-2_coding_SNVs

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

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

López-Flores LA et al.

Excli Journal, 2017

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_3_early_met_1

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

The missense genetic polymorphisms of human CYP2A13: functional significance in carcinogen activation and identification of a null allelic variant.

Wang SL et al.

Toxicological Sciences : an Official Journal of the Society of Toxicology, 2006

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

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

Nakajima M et al.

Drug Metabolism and Pharmacokinetics, 2005

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."