Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Q357*
Back to variants list

UGT1A1

NM_000463.3:p.Q357*

Associated Papers

Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Kim B et al.

Translational and Clinical Pharmacology, 2021

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Genomes_LOF

UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.

Abuduxikuer K et al.

Medicine, 2018

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

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

Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

Labrune P et al.

Human Genetics, 1994

Liver Fibrosis Associated With Crigler-Najjar Syndrome in a Compound Heterozygote: A Case Report.

Fata CR et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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."