Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.C280*
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UGT1A1

NM_000463.3:p.C280*

Associated Papers

Synthetic augmentation of bilirubin metabolism in human pluripotent stem cell-derived liver organoids.

Reza HA et al.

Stem Cell Reports, 2023

Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.

Ito S et al.

Jpgn Reports, 2022

Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia.

Aiso M et al.

Internal Medicine (tokyo, Japan), 2017

Contribution of UGT1A1 variations to chemotherapy-induced unconjugated hyperbilirubinemia in pediatric leukemia patients.

Nomura A et al.

Pediatric Research, 2016

Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome.

Maruo Y et al.

Journal of Gastroenterology and Hepatology, 2016

A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I.

Wanlapakorn N et al.

Genetics and Molecular Research : Gmr, 2015

Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.

Canu G et al.

Blood Cells, Molecules & Diseases, 2013

Gilbert-Meulengracht's syndrome and pharmacogenetics: is jaundice just the tip of the iceberg?

Strassburg CP

Drug Metabolism Reviews, 2010

Family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A): from Gilbert's syndrome to genetic organization and variability.

Strassburg CP et al.

Archives of Toxicology, 2008

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

Strassburg CP et al.

Critical Reviews in Clinical Laboratory Sciences, 2008

Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.

Maruo Y et al.

Clinical Genetics, 2003

Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

Kadakol A et al.

Human Mutation, 2000

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."