Varaico: Literature-Extracted Genetic Variants

Gene:UGGT1
Variant:p.D71N
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UGGT1

NM_020120.4:p.D71N

Associated Papers

A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome.

Chenzhuo S et al.

Bmc Pediatrics, 2025

41039406 (PubMed )
Supplement: 12887_2025_5948_MOESM1_ESM.pdf

Type II Crigler-Najjar syndrome: a case report and literature review.

He T et al.

Frontiers in Medicine, 2024

SLC35A2-CDG: Novel variant and review.

Quelhas D et al.

Molecular Genetics and Metabolism Reports, 2021

Genetic influence of ABCG2, UGT1A1 and NR1I2 on dolutegravir plasma pharmacokinetics.

Elliot ER et al.

The Journal of Antimicrobial Chemotherapy, 2020

Analysis of the UGT1A1 Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution.

Mi XX et al.

Biomed Research International, 2019

Restriction fragment length polymorphism effectively identifies exon 1 mutation of UGT1A1 gene in patients with Gilbert's Syndrome.

Shiu TY et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2015

Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.

Gupta N et al.

Plos One, 2015

Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han.

Zhang X et al.

Genetics and Molecular Biology, 2012

Ethnic differences in the metabolism, toxicology and efficacy of three anticancer drugs.

Sai K et al.

Expert Opinion on Drug Metabolism & Toxicology, 2011

[Pharmacogenomics for adverse drug reactions].

Saito Y et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010

Uridine 5'-diphospho-glucuronosyltransferase genetic polymorphisms and response to cancer chemotherapy.

Ramírez J et al.

Future Oncology (london, England), 2010

Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

Sneitz N et al.

Human Mutation, 2010

UGT1A1*6 polymorphism is most predictive of severe neutropenia induced by irinotecan in Japanese cancer patients.

Onoue M et al.

International Journal of Clinical Oncology, 2009

Genetic variations and haplotypes of UDP-glucuronosyltransferase 1A locus in a Korean population.

Yea SS et al.

Therapeutic Drug Monitoring, 2008

Variability and function of family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A).

Strassburg CP et al.

Critical Reviews in Clinical Laboratory Sciences, 2008

Intra-ethnic differences in genetic variants of the UGT-glucuronosyltransferase 1A1 gene in Chinese populations.

Zhang A et al.

The Pharmacogenomics Journal, 2007

Genetic polymorphisms of drug-metabolising enzymes and drug transporters in the chemotherapeutic treatment of cancer.

Bosch TM et al.

Clinical Pharmacokinetics, 2006

Pharmacogenetics of uridine diphosphoglucuronosyltransferase (UGT) 1A family members and its role in patient response to irinotecan.

Nagar S et al.

Drug Metabolism Reviews, 2006

Genetic factors related to unconjugated hyperbilirubinemia amongst adults.

Huang CS et al.

Pharmacogenetics and Genomics, 2005

Comprehensive UGT1A1 genotyping in a Japanese population by pyrosequencing.

Saeki M et al.

Clinical Chemistry, 2003

The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence.

Mackenzie PI et al.

Pharmacogenetics, 1997

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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."