Varaico: Literature-Extracted Genetic Variants

Gene:AOX1
Variant:p.N1135S
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AOX1

NM_001159.4:p.N1135S

Associated Papers

The rs35217482 (T755I) single-nucleotide polymorphism in aldehyde oxidase-1 attenuates prot ein dimer formation and reduces the rates of phthalazine metabolism.

Ueda H et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2022

Genetic variants of aldehyde oxidase (AOX) 1 in cynomolgus and rhesus macaques.

Uno Y et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2021

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

The genetics of gout: towards personalised medicine?

Dalbeth N et al.

Bmc Medicine, 2017

Genomic sequencing of uric acid metabolizing and clearing genes in relationship to xanthine oxidase inhibitor dose.

Carroll MB et al.

Rheumatology International, 2017

Genes implicated in thiopurine-induced toxicity: Comparing TPMT enzyme activity with clinical phenotype and exome data in a paediatric IBD cohort.

Coelho T et al.

Scientific Reports, 2016

Review article: recent advances in pharmacogenetics and pharmacokinetics for safe and effective thiopurine therapy in inflammatory bowel disease.

Moon W et al.

Alimentary Pharmacology & Therapeutics, 2016

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06O-01A.domain

A pharmacogenetic study of aldehyde oxidase I in patients treated with XK469.

Ramírez J et al.

Pharmacogenetics and Genomics, 2014

Polymorphism of genes involved in purine metabolism (XDH, AOX1, MOCOS) in kidney transplant recipients receiving azathioprine.

Kurzawski M et al.

Therapeutic Drug Monitoring, 2012

The impact of single nucleotide polymorphisms on human aldehyde oxidase.

Hartmann T et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2012

Inosine triphosphate pyrophosphatase 94C>A polymorphism: clinical implications for patients with systemic lupus erythematosus treated with azathioprine.

Yamamoto K et al.

Expert Opinion on Drug Safety, 2010

Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease.

Smith MA et al.

Alimentary Pharmacology & Therapeutics, 2009

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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."