Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A7
Variant:p.N129K
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UGT1A7

NM_019077.3:p.N129K

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

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

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

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

Tagawa K et al.

Toxicology Mechanisms and Methods, 2023

The UGT1A9*22 genotype identifies a high-risk group for irinotecan toxicity among gastric cancer patients.

Lee CK et al.

Genomics & Informatics, 2022

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__

UDP-glucuronosyltransferase polymorphisms affect diethylnitrosamine-induced carcinogenesis in humanized transgenic mice.

Landerer S et al.

Cancer Science, 2020

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

Genetic variants of UDP-glucuronosyltransferase 1A genes are associated with disease presentation and outcome in primary sclerosing cholangitis.

Weismüller TJ et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2020

Host genetic profiling to increase drug safety in colorectal cancer from discovery to implementation.

Cecchin E et al.

Drug Resistance Updates : Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy, 2018

UGT1A1*6, UGT1A7*3 and UGT1A9*1b polymorphisms are predictive markers for severe toxicity in patients with metastatic gastrointestinal cancer treated with irinotecan-based regimens.

Cui C et al.

Oncology Letters, 2016

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

Hu DG et al.

Drug Metabolism Reviews, 2016

Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver.

Liu W et al.

Human Molecular Genetics, 2014

Differences in UGT1A1, UGT1A7, and UGT1A9 polymorphisms between Uzbek and Japanese populations.

Maeda H et al.

Molecular Diagnosis & Therapy, 2014

Alteration of the function of the UDP-glucuronosyltransferase 1A subfamily by cytochrome P450 3A4: different susceptibility for UGT isoforms and UGT1A1/7 variants.

Ishii Y et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2014

Polymorphisms of uridine glucuronosyltransferase gene and irinotecan toxicity: low dose does not protect from toxicity.

Tziotou M et al.

Ecancermedicalscience, 2014

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.

Parcerisas A et al.

Journal of Alzheimer's Disease : Jad, 2014

25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P8H

The effect of genetic polymorphisms in UGT2B15 on the pharmacokinetic profile of sipoglitazar, a novel anti-diabetic agent.

Stringer F et al.

European Journal of Clinical Pharmacology, 2013

Polymorphisms of the UDP-glucuronosyl transferase 1A genes are associated with adverse events in cancer patients receiving irinotecan-based chemotherapy.

Inoue K et al.

The Tohoku Journal of Experimental Medicine, 2013

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR et al.

Genome Medicine, 2013

Is there diversity among UGT1A1 polymorphism in Japan?

Kobayashi M et al.

World Journal of Gastrointestinal Oncology, 2012

Gilbert syndrome redefined: a complex genetic haplotype influences the regulation of glucuronidation.

Ehmer U et al.

Hepatology (baltimore, Md.), 2012

High enzyme activity UGT1A1 or low activity UGT1A8 and UGT2B4 genotypes increase esophageal cancer risk.

Dura P et al.

International Journal of Oncology, 2012

Genetic variants in carcinogen-metabolizing enzymes, cigarette smoking and pancreatic cancer risk.

Jang JH et al.

Carcinogenesis, 2012

Association between polymorphisms in UDP-glucuronosyltransferase 1A6 and 1A7 and colorectal cancer risk.

Osawa K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2012

Interactions among genetic variants in tobacco metabolizing genes and smoking are associated with head and neck cancer susceptibility in North Indians.

Sharma R et al.

Dna and Cell Biology, 2011

Ethnic differences in the metabolism, toxicology and efficacy of three anticancer drugs.

Sai K et al.

Expert Opinion on Drug Metabolism & Toxicology, 2011

Evaluation of the association studies of single nucleotide polymorphisms and hepatocellular carcinoma: a systematic review.

Jin F et al.

Journal of Cancer Research and Clinical Oncology, 2011

Part 3: Pharmacogenetic variability in phase II anticancer drug metabolism.

Deenen MJ et al.

The Oncologist, 2011

Polymorphisms in CYP2A13 and UGT1A7 genes and head and neck cancer susceptibility in North Indians.

Sharma R et al.

Oral Diseases, 2010

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

Strassburg CP

Best Practice & Research. Clinical Gastroenterology, 2010

UGT1A and TYMS genetic variants predict toxicity and response of colorectal cancer patients treated with first-line irinotecan and fluorouracil combination therapy.

Martinez-Balibrea E et al.

British Journal of Cancer, 2010

[Pharmacogenomics for adverse drug reactions].

Saito Y et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010

Irinotecan pharmacogenomics.

Marsh S et al.

Pharmacogenomics, 2010

Uridine 5'-diphospho-glucuronosyltransferase genetic polymorphisms and response to cancer chemotherapy.

Ramírez J et al.

Future Oncology (london, England), 2010

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

Strassburg CP

Drug Metabolism Reviews, 2010

UGT1A1 genotyping: a predictor of irinotecan-associated side effects and drug efficacy?

Schulz C et al.

Anti-cancer Drugs, 2009

Genetic polymorphisms in the tobacco smoke carcinogens detoxifying enzyme UGT1A7 and the risk of head and neck cancer.

Lacko M et al.

Head & Neck, 2009

Uridine diphosphoglucuronosyltransferase 1A7 gene polymorphism and susceptibility to chromosomal damage among polycyclic aromatic hydrocarbons exposed workers.

Wang Y et al.

Journal of Occupational and Environmental Medicine, 2009

Gilbert's syndrome and hyperbilirubinemia in protease inhibitor therapy--an extended haplotype of genetic variants increases risk in indinavir treatment.

Lankisch TO et al.

Journal of Hepatology, 2009

Characterization of UGTs active against SAHA and association between SAHA glucuronidation activity phenotype with UGT genotype.

Balliet RM et al.

Cancer Research, 2009

Close association of UGT1A9 IVS1+399C>T with UGT1A1*28, *6, or *60 haplotype and its apparent influence on 7-ethyl-10-hydroxycamptothecin (SN-38) glucuronidation in Japanese.

Saito Y et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2009

Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.

Cotterchio M et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008

Pharmacogenetic pathway analysis of irinotecan.

Rosner GL et al.

Clinical Pharmacology and Therapeutics, 2008

Aryl hydrocarbon receptor-mediated regulation of the human estrogen and bile acid UDP-glucuronosyltransferase 1A3 gene.

Lankisch TO et al.

Archives of Toxicology, 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

Update on tools for evaluation of uridine diphosphoglucuronosyltransferase polymorphisms.

Argikar UA et al.

Expert Opinion on Drug Metabolism & Toxicology, 2008

A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of non-small cell lung cancer in smokers.

Zienolddiny S et al.

Carcinogenesis, 2008

Gilbert's Syndrome and irinotecan toxicity: combination with UDP-glucuronosyltransferase 1A7 variants increases risk.

Lankisch TO et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008

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