Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.R367G
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UGT1A1

NM_000463.3:p.R367G

Associated Papers

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

Kim B et al.

Translational and Clinical Pharmacology, 2021

The role of UGT1A1 promoter polymorphism and exon-1 mutations in neonatal jaundice.

Halis H et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2017

Characterization of ADME gene variation in 21 populations by exome sequencing.

Hovelson DH et al.

Pharmacogenetics and Genomics, 2017

27984508 (PubMed )
Supplement: fpc-27-089-s004.xlsx › CorePharmADME.VariantDepthStats

[Repeated yellowing of the skin and sclera for 2 years].

Yuan XY et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017

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

Aiso M et al.

Internal Medicine (tokyo, Japan), 2017

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

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

Rodrigues C et al.

Human Mutation, 2015

26377032 (PubMed )
Supplement: supplement_1.pdf

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

Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.

Minucci A et al.

Clinical Biochemistry, 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

Exploring the genetic architecture of neonatal hyperbilirubinemia.

Watchko JF et al.

Seminars in Fetal & Neonatal Medicine, 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

Clinical and pharmacogenetic factors associated with irinotecan toxicity.

Kweekel D et al.

Cancer Treatment Reviews, 2008

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

Strassburg CP et al.

Archives of Toxicology, 2008

A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis.

Wu JX et al.

Journal of Digestive Diseases, 2008

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

Strassburg CP et al.

Critical Reviews in Clinical Laboratory Sciences, 2008

Cord blood bilirubin level in relation to bilirubin UDP-glucuronosyltransferase gene missense allele in Chinese neonates.

Sun G et al.

Acta Paediatrica (oslo, Norway : 1992), 2007

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

Li C et al.

Bmc Evolutionary Biology, 2007

Pharmacogenetic approach for cancer treatment-tailored medicine in practice.

Hasegawa Y et al.

Annals of the New York Academy of Sciences, 2006

Screening for adverse reactions to irinotecan treatment using the Invader UGT1A1 Molecular Assay.

Hasegawa Y et al.

Expert Review of Molecular Diagnostics, 2006

Validation of in vitro cell models used in drug metabolism and transport studies; genotyping of cytochrome P450, phase II enzymes and drug transporter polymorphisms in the human hepatoma (HepG2), ovarian carcinoma (IGROV-1) and colon carcinoma (CaCo-2, LS180) cell lines.

Brandon EF et al.

Toxicology and Applied Pharmacology, 2006

Pharmacogenetics of irinotecan: a promoter polymorphism of UGT1A1 gene and severe adverse reactions to irinotecan.

Ando M et al.

Investigational New Drugs, 2005

Pharmacogenetics for individualized cancer chemotherapy.

Efferth T et al.

Pharmacology & Therapeutics, 2005

Predicting drug response and toxicity based on gene polymorphisms.

Robert J et al.

Critical Reviews in Oncology/hematology, 2005

Clinical pharmacogenetics of irinotecan (CPT-11).

Ando Y et al.

Drug Metabolism Reviews, 2005

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

Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome.

Hsieh SY et al.

The American Journal of Gastroenterology, 2001

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

Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians.

Kimura T et al.

Journal of Inherited Metabolic Disease, 1999

Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.

Sampietro M et al.

Haematologica, 1999

Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese.

Akaba K et al.

Journal of Human Genetics, 1999

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

Mackenzie PI et al.

Pharmacogenetics, 1997

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."