Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A6
Variant:p.R184S
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UGT1A6

NM_001072.4:p.R184S

Associated Papers

Hepatic Cytochrome P450 Enzymatic System Interaction With Platelet Function and Cardiovascular Outcomes-Pharmacogenomic Impact on Inter-Organ Communication.

Figueiral M et al.

Comprehensive Physiology, 2025

Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.

Gibson LM et al.

International Journal of Molecular Sciences, 2025

40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values

A Common UDP-Glucuronosyltransferase (UGT)1A Haplotype Is Associated With Accelerated Aging in Humanized Transgenic Mice.

Langhans B et al.

Oxidative Medicine and Cellular Longevity, 2025

Association of UGT1A6 gene polymorphisms with sodium valproate-induced tremor in patients with epilepsy.

Yin Z et al.

Seizure, 2024

Pharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications.

Gambari R et al.

International Journal of Molecular Sciences, 2024

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Distribution pattern of UGT1A6 and UGT2B7 gene polymorphism and its impact on the pharmacokinetics of valproic acid and carbamazepine: Prospective genetic association study conducted in Pakistani patients with epilepsy.

Saleh Faisal M et al.

Gene, 2024

Impact of genetic polymorphisms on the risk of epilepsy amongst patients with acute brain injury: A systematic review.

Misra S et al.

European Journal of Neurology, 2023

Effects of common genetic variants of human uridine diphosphate glucuronosyltransferase subfamilies on irinotecan glucuronidation.

Tagawa K et al.

Toxicology Mechanisms and Methods, 2023

Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients.

Zheng XX et al.

Pharmacogenomics, 2023

Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group.

Junk SV et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2023

36639636 (PubMed )
Supplement: 13046_2022_2585_MOESM1_ESM.pdf

Molecular monitoring of patient response to painkiller drugs.

Ayuso P et al.

Expert Review of Molecular Diagnostics, 2022

Common UGT1A6 Variant Alleles Determine Acetaminophen Pharmacokinetics in Man.

Cerezo-Arias MLO et al.

Journal of Personalized Medicine, 2022

Pharmacogenomic study of anthracycline-induced cardiotoxicity in Mexican pediatric patients.

Vargas-Neri JL et al.

Pharmacogenomics, 2022

CYP2C19 & UGT1A6 genetic polymorphisms and the impact on Valproic acid-induced weight gain in people with epilepsy: Prospective genetic association study.

Mani B et al.

Epilepsy Research, 2021

UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric Epileptic Patients on Sodium Valproate Monotherapy.

Nandith PB et al.

Indian Journal of Pediatrics, 2021

Pharmacogenetics of Carbamazepine and Valproate: Focus on Polymorphisms of Drug Metabolizing Enzymes and Transporters.

Iannaccone T et al.

Pharmaceuticals (basel, Switzerland), 2021

Genetic polymorphisms associated with upper gastrointestinal bleeding: a systematic review.

Forgerini M et al.

The Pharmacogenomics Journal, 2021

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Association of UGT1A6 gene polymorphism with clinical outcome in pediatric epileptic patients on sodium valproate monotherapy.

Banawalikar N et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2021

Impact of Age and Genotype on Serum Concentrations of Valproic Acid and Its Hepatotoxic Metabolites in Chinese Pediatric Patients With Epilepsy.

Zhao M et al.

Therapeutic Drug Monitoring, 2020

Clinical Relevance of Pharmacogenetics in Serotonin Syndrome.

Pandya D et al.

Case Reports in Psychiatry, 2020

Genetic and Non-genetic Factors Contributing to the Significant Variation in the Plasma Trough Concentration-to-Dose Ratio of Valproic Acid in Children With Epilepsy.

Xu ZY et al.

Frontiers in Pediatrics, 2020

A meta-analysis of the influence of UGT1A6 genetic polymorphisms on valproic acid pharmacokinetics
.

Kim SC et al.

International Journal of Clinical Pharmacology and Therapeutics, 2019

PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data.

Hsu YH et al.

Plos Computational Biology, 2019

Population pharmacokinetics of valproic acid in epileptic children: Effects of clinical and genetic factors.

Xu S et al.

European Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences, 2018

Pharmacogenetics of adverse reactions to antiepileptic drugs.

Fricke-Galindo I et al.

Neurologia, 2018

Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations.

Sheth H et al.

Plos One, 2018

Early post-traumatic seizures are associated with valproic acid plasma concentrations and UGT1A6/CYP2C9 genetic polymorphisms in patients with severe traumatic brain injury.

Sun Y et al.

Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine, 2017

Candidate gene association studies and risk of Hodgkin lymphoma: a systematic review and meta-analysis.

Sud A et al.

Hematological Oncology, 2017

Effects of UGT1A9 genetic polymorphisms on monohydroxylated derivative of oxcarbazepine concentrations and oxcarbazepine monotherapeutic efficacy in Chinese patients with epilepsy.

Lu Y et al.

European Journal of Clinical Pharmacology, 2017

Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.

Gonzalez-Covarrubias V et al.

Frontiers in Pharmacology, 2017

29218011 (PubMed )
Supplement: Table1.XLSX › ST1_targetgenes

Association of UGT2B7 and UGT1A4 Polymorphisms with Serum Concentration of Antiepileptic Drugs in Children.

Du Z et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2016

UGT1A6- and UGT2B7-related valproic acid pharmacogenomics according to age groups and total drug concentration levels.

Chatzistefanidis D et al.

Pharmacogenomics, 2016

Genetic polymorphisms in UDP-glucuronosyltransferase 1A6 and 1A7 and the risk for benign Warthin's tumors of the parotid gland.

Lacko M et al.

Head & Neck, 2016

Genetic polymorphisms of human UDP-glucuronosyltransferase (UGT) genes and cancer risk.

Hu DG et al.

Drug Metabolism Reviews, 2016

Tissue-specific patterns of gene expression in the epithelium and stroma of normal colon in healthy individuals in an aspirin intervention trial.

Thomas SS et al.

Genomics Data, 2015

Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects: A Strobe Compliant Article.

Oussalah A et al.

Medicine, 2015

Genetic variation in UGT genes modify the associations of NSAIDs with risk of colorectal cancer: colon cancer family registry.

Scherer D et al.

Genes, Chromosomes & Cancer, 2014

The effect of UGT1A and UGT2B polymorphisms on colorectal cancer risk: haplotype associations and gene–environment interactions.

Angstadt AY et al.

Genes, Chromosomes & Cancer, 2014

Molecular genetic mechanisms of chronic urticaria.

Losol P et al.

Allergy, Asthma & Immunology Research, 2014

Three most common nonsynonymous UGT1A6*2 polymorphisms (Thr181Ala, Arg184Ser and Ser7Ala) and therapeutic response to deferiprone in β-thalassemia major patients.

Dadheech S et al.

Gene, 2013

The effect of uridine diphosphate glucuronosyltransferase (UGT)1A6 genetic polymorphism on valproic acid pharmacokinetics in Indian patients with epilepsy: a pharmacogenetic approach.

Munisamy M et al.

Molecular Diagnosis & Therapy, 2013

S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis.

Kim SY et al.

British Journal of Cancer, 2013

Combined effect of genetic polymorphisms in phase I and II biotransformation enzymes on head and neck cancer risk.

Lacko M et al.

Head & Neck, 2013

Effect of common single-nucleotide polymorphisms in acetylsalicylic acid metabolic pathway genes on platelet reactivity in patients with diabetes.

Postula M et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2013

The UDP-glucuronosyltransferase (UGT) 1A polymorphism c.2042C>G (rs8330) is associated with increased human liver acetaminophen glucuronidation, increased UGT1A exon 5a/5b splice variant mRNA ratio, and decreased risk of unintentional acetaminophen-induced acute liver failure.

Court MH et al.

The Journal of Pharmacology and Experimental Therapeutics, 2013

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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."