Varaico: Literature-Extracted Genetic Variants

Gene:XDH
Variant:p.H1221R
Back to variants list

XDH

NM_000379.4:p.H1221R

Associated Papers

Potential Opportunities for Pharmacogenetic-Based Therapeutic Exploitation of Xanthine Dehydrogenase in Cardiovascular Disease.

Massimo G et al.

Antioxidants (basel, Switzerland), 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

Natural mutations of human XDH promote the nitrite (NO2-)-reductase capacity of xanthine oxidoreductase: A novel mechanism to promote redox health?

Massimo G et al.

Redox Biology, 2023

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

Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease.

Park SK et al.

Scandinavian Journal of Gastroenterology, 2016

Distribution of xanthine oxidase activity in a Nigerian population.

Adehin A et al.

European Journal of Clinical Pharmacology, 2015

Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Liu J et al.

Nature Communications, 2014

24807215 (PubMed )
Supplement: ncomms4830-s10.xls › S9-Cell_line_mutations

Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.

Ichida K et al.

International Journal of Molecular Sciences, 2012

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

Stiburkova B et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

Kinetics of 6-thioxanthine metabolism by allelic variants of xanthine oxidase.

Kudo M et al.

Drug Metabolism and Pharmacokinetics, 2010

Functional characterization of human xanthine oxidase allelic variants.

Kudo M et al.

Pharmacogenetics and Genomics, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."