Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.F83L
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UGT1A1

NM_000463.3:p.F83L

Associated Papers

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

Kim B et al.

Translational and Clinical Pharmacology, 2021

Establishment of the experimental procedure for prediction of conjugation capacity in mutant UGT1A1.

Takaoka Y et al.

Plos One, 2019

Quantitative Atlas of Cytochrome P450, UDP-Glucuronosyltransferase, and Transporter Proteins in Jejunum of Morbidly Obese Subjects.

Miyauchi E et al.

Molecular Pharmaceutics, 2016

27347605 (PubMed )
Supplement: mp6b00085_si_001.pdf

Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.

Rodrigues C et al.

Human Mutation, 2015

UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia.

Skierka JM et al.

The Journal of Pediatrics, 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

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

Zhang X et al.

Biochemical Genetics, 2012

Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review.

Ranjan P et al.

Journal of Clinical and Experimental Hepatology, 2011

Flavopiridol pharmacogenetics: clinical and functional evidence for the role of SLCO1B1/OATP1B1 in flavopiridol disposition.

Ni W et al.

Plos One, 2010

Phenotype prediction of nonsynonymous single nucleotide polymorphisms in human phase II drug/xenobiotic metabolizing enzymes: perspectives on molecular evolution.

Hao D et al.

Science China. Life Sciences, 2010

Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome).

Strassburg CP

Best Practice & Research. Clinical Gastroenterology, 2010

Natural history of Southeast Asian Ovalocytosis during the first 3 years of life.

Laosombat V et al.

Blood Cells, Molecules & Diseases, 2010

Exploring the genetic architecture of neonatal hyperbilirubinemia.

Watchko JF et al.

Seminars in Fetal & Neonatal Medicine, 2010

A molecular model of the human UDP-glucuronosyltransferase 1A1, its membrane orientation, and the interactions between different parts of the enzyme.

Laakkonen L et al.

Molecular Pharmacology, 2010

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

Strassburg CP

Drug Metabolism Reviews, 2010

Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.

Di YM et al.

The Aaps Journal, 2009

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

Strassburg CP et al.

Archives of Toxicology, 2008

Genotyping panel for assessing response to cancer chemotherapy.

Dai Z et al.

Bmc Medical Genomics, 2008

18547414 (PubMed )
Supplement: 1755-8794-1-24-S1.xls › SNPs_selected_for_SNPlex_design

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

Strassburg CP et al.

Critical Reviews in Clinical Laboratory Sciences, 2008

Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates.

Udomuksorn W et al.

Pharmacogenetics and Genomics, 2007

Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism.

Baudhuin LM et al.

Clinical Biochemistry, 2007

Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes.

Li C et al.

Bmc Evolutionary Biology, 2007

Genetic variability, haplotypes, and htSNPs for exons 1 at the human UGT1A locus.

Thomas SS et al.

Human Mutation, 2006

Evaluation of mutation effects on UGT1A1 activity toward 17beta-estradiol using liquid chromatography-tandem mass spectrometry.

Wada K et al.

Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 2006

Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population.

Yusoff S et al.

Biology of the Neonate, 2006

Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686C> T (P229L) found in an African-American.

Kaniwa N et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2005

Transfection assays with allele-specific constructs: functional analysis of UDP-glucuronosyltransferase variants.

Jinno H et al.

Methods in Molecular Biology (clifton, N.j.), 2005

Comprehensive UGT1A1 genotyping in a Japanese population by pyrosequencing.

Saeki M et al.

Clinical Chemistry, 2003

[From gene to disease; unconjugated hyperbilirubinemia: Gilbert's syndrome and Crigler-Najjar types I and II].

Drenth JP et al.

Nederlands Tijdschrift Voor Geneeskunde, 2002

Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome.

Sutomo R et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2002

Haplotype structures of the UGT1A gene complex in a Japanese population.

Saeki M et al.

The Pharmacogenomics Journal, 0

Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.

Costa E

Blood Cells, Molecules & Diseases, 0

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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."