Varaico: Literature-Extracted Genetic Variants

Gene:NQO1
Variant:p.R139W
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NQO1

NM_000903.3:p.R139W

Associated Papers

Combination treatment with antioxidants and creatine alleviates common and variant-specific mitochondrial impairments in Leber's hereditary optic neuropathy patient-derived fibroblasts.

Xhuti D et al.

Human Molecular Genetics, 2025

The MiBlend Randomized Trial: Investigating Genetic Polymorphisms in Personalized Responses to Fruit and Vegetable Interventions for Chronic Disease Prevention.

DeBenedictis JN et al.

Antioxidants (basel, Switzerland), 2025

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

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.

Aleo SJ et al.

Cell Reports. Medicine, 2024

Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.

Zhang T et al.

Peerj, 2024

39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.

Lunghi B et al.

International Journal of Molecular Sciences, 2023

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.

Baglivo M et al.

International Journal of Molecular Sciences, 2023

Phenotypic Modulation of Cancer-Associated Antioxidant NQO1 Activity by Post-Translational Modifications and the Natural Diversity of the Human Genome.

Pey AL

Antioxidants (basel, Switzerland), 2023

The pharmacogenomic landscape of an Indigenous Australian population.

Samarasinghe SR et al.

Frontiers in Pharmacology, 2023

37284308 (PubMed )
Supplement: Table3.xlsx › HGMD-ClinVar_14_known_variants

Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.

Zhou D et al.

Frontiers in Oncology, 2023

37546421 (PubMed )
Supplement: DataSheet_1.xlsx › Sheet1

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

35180847 (PubMed )
Supplement: 12885_2022_9279_MOESM3_ESM.xlsx › sheet1

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Naturally-Occurring Rare Mutations Cause Mild to Catastrophic Effects in the Multifunctional and Cancer-Associated NQO1 Protein.

Pacheco-García JL et al.

Journal of Personalized Medicine, 2020

A small molecule chaperone rescues the stability and activity of a cancer-associated variant of NAD(P)H:quinone oxidoreductase 1 in vitro.

Strandback E et al.

Febs Letters, 2020

Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.

Chen Z et al.

Molecular Genetics & Genomic Medicine, 2020

31867841 (PubMed )
Supplement: MGG3-8-e1079-s004.xlsx › Sheet1

Cancer-associated variants of human NQO1: impacts on inhibitor binding and cooperativity.

Megarity CF et al.

Bioscience Reports, 2019

Cancer Cell Sensitivity to Redox-Cycling Quinones is Influenced by NAD(P)H: Quinone Oxidoreductase 1 Polymorphism.

Glorieux C et al.

Antioxidants (basel, Switzerland), 2019

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

Natural (and Unnatural) Small Molecules as Pharmacological Chaperones and Inhibitors in Cancer.

Betancor-Fernández I et al.

Handbook of Experimental Pharmacology, 2018

Thermodynamics of cooperative binding of FAD to human NQO1: Implications to understanding cofactor-dependent function and stability of the flavoproteome.

Clavería-Gimeno R et al.

Archives of Biochemistry and Biophysics, 2017

Longrange PCR-based next-generation sequencing in pharmacokinetics and pharmacodynamics study of propofol among patients under general anaesthesia.

Zakerska-Banaszak O et al.

Scientific Reports, 2017

Catalytic competence, structure and stability of the cancer-associated R139W variant of the human NAD(P)H:quinone oxidoreductase 1 (NQO1).

Lienhart WD et al.

The Febs Journal, 2017

Conformational dynamics is key to understanding loss-of-function of NQO1 cancer-associated polymorphisms and its correction by pharmacological ligands.

Medina-Carmona E et al.

Scientific Reports, 2016

FAD binding overcomes defects in activity and stability displayed by cancer-associated variants of human NQO1.

Pey AL et al.

Biochimica Et Biophysica Acta, 2014

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Antioxidant defense enzyme genes and asthma susceptibility: gender-specific effects and heterogeneity in gene-gene interactions between pathogenetic variants of the disease.

Polonikov AV et al.

Biomed Research International, 2014

Current evidence for an inherited genetic basis of childhood acute lymphoblastic leukemia.

Urayama KY et al.

International Journal of Hematology, 2013

Genetic variants in metabolizing genes NQO1, NQO2, MTHFR and risk of prostate cancer: a study from North India.

Mandal RK et al.

Molecular Biology Reports, 2012

Germline genetic polymorphisms may influence chemotherapy response and disease outcome in osteosarcoma: a pilot study.

Windsor RE et al.

Cancer, 2012

NAD(P)H: quinone oxidoreductase 1 and its potential protective role in cardiovascular diseases and related conditions.

Zhu H et al.

Cardiovascular Toxicology, 2012

A functional NQO1 609C>T polymorphism and risk of gastrointestinal cancers: a meta-analysis.

Yu H et al.

Plos One, 2012

Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta-analysis.

Vijayakrishnan J et al.

Haematologica, 2010

NAD(P)H:quinone oxidoreductase 1 Arg139Trp and Pro187Ser polymorphisms imbalance estrogen metabolism towards DNA adduct formation in human mammary epithelial cells.

Singh S et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2009

Association of human NAD(P)H:quinone oxidoreductase 1 (NQO1) polymorphism with development of acute lung injury.

Reddy AJ et al.

Journal of Cellular and Molecular Medicine, 2009

Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

Küry S et al.

Bmc Cancer, 2008

Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

Figueroa JD et al.

Carcinogenesis, 2008

The NQO1 C609T polymorphism is associated with risk of secondary malignant neoplasms after treatment for childhood acute lymphoblastic leukemia: a matched-pair analysis from the ALL-BFM study group.

Stanulla M et al.

Haematologica, 2007

Impact of multiple genetic polymorphisms on effects of a 4-week blueberry juice intervention on ex vivo induced lymphocytic DNA damage in human volunteers.

Wilms LC et al.

Carcinogenesis, 2007

Polymorphisms in NQO1 and the clinical course of urinary bladder neoplasms.

Sanyal S et al.

Scandinavian Journal of Urology and Nephrology, 2007

Influence of genetic polymorphisms on the risk of developing leukemia and on disease progression.

Bolufer P et al.

Leukemia Research, 2006

Influence of polymorphism in DNA repair and defence genes on p53 mutations in bladder tumours.

Ryk C et al.

Cancer Letters, 2006

The association of a distinctive allele of NAD(P)H:quinone oxidoreductase with pediatric acute lymphoblastic leukemias with MLL fusion genes in Japan.

Eguchi-Ishimae M et al.

Haematologica, 2005

A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.

Landi S et al.

Pharmacogenetics and Genomics, 2005

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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."