Varaico: Literature-Extracted Genetic Variants

Gene:CYP2A6
Variant:p.L8L
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CYP2A6

NM_000762.6:p.L8L

Associated Papers

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

Comparison of genetic susceptibility to lung adenocarcinoma and squamous cell carcinoma in Japanese patients using a novel panel for cancer-related drug-metabolizing enzyme genes.

Ohnami S et al.

Scientific Reports, 2022

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

López-Flores LA et al.

Excli Journal, 2017

Association analysis of CYP2A6 genotypes and haplotypes with 5-fluorouracil formation from tegafur in human liver microsomes.

Wang H et al.

Pharmacogenomics, 2011

A novel CYP2A6 allele (CYP2A6*35) resulting in an amino-acid substitution (Asn438Tyr) is associated with lower CYP2A6 activity in vivo.

Al Koudsi N et al.

The Pharmacogenomics Journal, 2009

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

Mwenifumbo JC et al.

Human Mutation, 2008

Three haplotypes associated with CYP2A6 phenotypes in Caucasians.

Haberl M et al.

Pharmacogenetics and Genomics, 2005

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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."