Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.P451L
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UGT1A1

NM_000463.3:p.P451L

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases.

You JY et al.

World Journal of Clinical Pediatrics, 2024

Neonatal jaundice caused by compound mutations of SLC10A1 and a novel UGT1A1 gene.

Wang M et al.

Clinics and Research in Hepatology and Gastroenterology, 2024

Concurrence of novel mutations causing Gilbert's and Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese family.

Zhou TC et al.

Journal of Human Genetics, 2023

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.

Xie Y et al.

Children (basel, Switzerland), 2022

36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5

A novel pathogenesis concept of biliary atresia approached by combined molecular strategies.

Laochareonsuk W et al.

Plos One, 2022

Clinical features of sodium-taurocholate cotransporting polypeptide deficiency in pediatric patients: case series and literature review.

Zou TT et al.

Translational Pediatrics, 2021

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

Abuduxikuer K et al.

Medicine, 2018

UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population.

Wisnumurti DA et al.

Biomed Research International, 2018

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.

Qiu YL et al.

Hepatology (baltimore, Md.), 2017

28027573 (PubMed )
Supplement: HEP-65-1655-s001.pdf

Clinical Significance of UGT1A1 Genetic Analysis in Chinese Neonates with Severe Hyperbilirubinemia.

Yang H et al.

Pediatrics and Neonatology, 2016

Analysis of uridine diphosphate glucuronosyl transferase 1A1 gene mutations in neonates with unconjugated hyperbilirubinemia.

Guo XH et al.

Genetics and Molecular Research : Gmr, 2016

UGT1A1 sequence variants associated with risk of adult hyperbilirubinemia: a quantitative analysis.

Chen Z et al.

Gene, 2014

Role of co-inherited Gilbert syndrome on hyperbilirubinemia in Indian beta thalassemia patients.

Dabke PS et al.

Hematology (amsterdam, Netherlands), 2014

Comprehensive analysis of UGT1A1 polymorphisms through high-resolution melting analysis and DNA sequencing.

Tsai SY et al.

Clinical Laboratory, 2014

[Mutation analysis of UGT1A1 gene in patients with unconjugated hyperbilirubinemia].

Sun SC et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013

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

Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.

Galehdari H et al.

International Journal of Molecular Epidemiology and Genetics, 2013

Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.

Rahim F et al.

Genetics Research International, 2013

Comprehensive analysis of UGT1A1 genetic polymorphisms in Chinese Tibetan and Han populations.

Zhang X et al.

Biochemical Genetics, 2012

Genetic variations and haplotype diversity of the UGT1 gene cluster in the Chinese population.

Yang J et al.

Plos One, 2012

UGT1A1 haplotype mutation among Asians in Singapore.

Zhou YY et al.

Neonatology, 2009

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