Varaico: Literature-Extracted Genetic Variants

Gene:NQO1
Variant:p.P187S
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NQO1

NM_000903.3:p.P187S

Associated Papers

Integrated Cross-Platform Analysis Reveals Candidate Variants and Linkage Disequilibrium-Defined Loci Associated with Osteoporosis in Korean Postmenopausal Women.

Kim SK et al.

Diagnostics (basel, Switzerland), 2026

Atypical clinical and MRI features in Leber hereditary optic neuropathy: a case series of four patients.

De Napoli G et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

Decoding the Impact of Genetic Polymorphisms in Xenobiotic Metabolizing Enzymes and Ovarian Cancer: A Comprehensive Review.

Sistla HC et al.

Environmental and Molecular Mutagenesis, 2025

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

Custom Gene Panel Analysis Identifies Novel Polymorphisms Associated with Clopidogrel Response in Patients Undergoing Percutaneous Coronary Intervention with Stent.

Antúnez-Rodríguez A et al.

International Journal of Molecular Sciences, 2025

41097034 (PubMed )
Supplement: ijms-26-09766-s001.zip › ijms-3859360-supplementary.pdf

Xenobiotic metabolizing gene polymorphisms and their influence on ovarian cancer susceptibility: A Case-Control and an in silico approach.

Sistla HC et al.

Molecular Biology Reports, 2025

Impact of NAD(P)H: Quinone Oxidoreductase 1 (NQO1) C609T Polymorphism on Lung Cancer Risk.

Gumuskaya PO et al.

Medicina (kaunas, Lithuania), 2025

Precision proteogenomics reveals pan-cancer impact of germline variants.

Martins Rodrigues F et al.

Cell, 2025

Genetic signatures of ERCC1 and ERCC2 expression, along with SNPs variants, unveil favorable prognosis in SCLC patients undergoing platinum-based chemotherapy.

Caliman E et al.

Oncology Research, 2025

Case Report: A rare case of hepatoid carcinoma of the ovary with genomic profiling and long-term follow-up: diagnostic and therapeutic perspectives.

Zuo Y et al.

Frontiers in Oncology, 2025

Genetic variability profiling of the p53 signaling pathway in chronic lymphocytic leukemia. Individual and combined analysis of TP53, MDM2 and NQO1 gene variants.

Fontecha MB et al.

Annals of Hematology, 2024

NQO1 polymorphism and susceptibility to ischemic stroke in a Chinese population.

Wang M et al.

Bmc Medical Genomics, 2024

Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.

Matsumoto H et al.

Molecular Genetics & Genomic Medicine, 2024

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

Exome Sequencing: the Search for Mutations Associated with Hereditary Breast and Ovarian Cancers in the Tuvan Ethnic Group (A Pilot Study).

Gervas P et al.

Bulletin of Experimental Biology and Medicine, 2024

Comprehensive Molecular Profiling of NPM1-Mutated Acute Myeloid Leukemia Using RNAseq Approach.

Petiti J et al.

International Journal of Molecular Sciences, 2024

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

New insights into the role of VKORC1 polymorphisms for optimal warfarin dose selection in Caribbean Hispanic patients through an external validation of a population PK/PD model.

Rodríguez-Fernández K et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2024

TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review.

Song H et al.

Frontiers in Oncology, 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

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

Elucidation of Increased Cervical Cancer Risk Due to Polymorphisms in XRCC1 (R399Q and R194W), ERCC5 (D1104H), and NQO1 (P187S).

Das AP et al.

Reproductive Sciences (thousand Oaks, Calif.), 2023

Clinical and genomic features of non-small cell lung cancer occurring in families.

Miyabe S et al.

Thoracic Cancer, 2023

The Progress and Pitfalls of Pharmacogenetics-Based Precision Medicine in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis.

Teng Y et al.

Journal of Personalized Medicine, 2023

36983653 (PubMed )
Supplement: jpm-13-00471-s001.zip › Supplementary_Table_S1.xlsx › Table_S1

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.

Grigor'eva EV et al.

International Journal of Molecular Sciences, 2023

36901867 (PubMed )
Supplement: ijms-24-04437-s001.zip › ijms-2163006-supplementary.pdf

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

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.

Silveira C et al.

Molecular Syndromology, 2023

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

Genetic Polymorphism of NQO1 Influences Susceptibility to Coronary Heart Disease in a Chinese Population: A Cross-Sectional Study and Meta-Anaylsis.

Zhou YY et al.

Pharmacogenomics and Personalized Medicine, 2023

FAD-deficient P187S mutation of NAD(P)H:quinone oxidoreductase 1 (NQO1*2) binds and accelerates β-amyloid aggregation.

Panja S et al.

Bioscience Reports, 2022

PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.

Giardiello D et al.

Breast Cancer Research : Bcr, 2022

36271417 (PubMed )
Supplement: 13058_2022_1567_MOESM2_ESM.xlsx › SupplementaryTable1

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM2_ESM.xlsx › Literature_review_table

Allosteric Communication in the Multifunctional and Redox NQO1 Protein Studied by Cavity-Making Mutations.

Pacheco-Garcia JL et al.

Antioxidants (basel, Switzerland), 2022

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM1_ESM.docx

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.

Mavaddat N et al.

Jama Oncology, 2022

35084436 (PubMed )
Supplement: jamaoncol-e216744-s001.pdf

Upregulation of wild-type p53 by small molecule-induced elevation of NQO1 in non-small cell lung cancer cells.

Yu H et al.

Acta Pharmacologica Sinica, 2022

Probing altered enzyme activity in the biochemical characterization of cancer.

Adam MAA et al.

Bioscience Reports, 2022

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

A single evolutionarily divergent mutation determines the different FAD-binding affinities of human and rat NQO1 due to site-specific phosphorylation.

Pacheco-Garcia JL et al.

Febs Letters, 2022

Genomic Profiling Reveals Novel Predictive Biomarkers for Chemo-Radiotherapy Efficacy and Thoracic Toxicity in Non-Small-Cell Lung Cancer.

He K et al.

Frontiers in Oncology, 2022

Tardive Dyskinesia Development, Superoxide Dismutase Levels, and Relevant Genetic Polymorphisms.

Uludag K et al.

Oxidative Medicine and Cellular Longevity, 2022

Research on the effects of rs1800566 C/T polymorphism of NAD(P)H quinone oxidoreductase 1 gene on cancer risk involves analysis of 43,736 cancer cases and 56,173 controls.

Zhou H et al.

Frontiers in Oncology, 2022

36338728 (PubMed )
Supplement: Table_1.docx

Effect of naturally-occurring mutations on the stability and function of cancer-associated NQO1: Comparison of experiments and computation.

Pacheco-Garcia JL et al.

Frontiers in Molecular Biosciences, 2022

Cardiovascular Pharmacogenomics: An Update on Clinical Studies of Antithrombotic Drugs in Brazilian Patients.

Hirata TDC et al.

Molecular Diagnosis & Therapy, 2021

Polymorphisms in NQO1 and MPO genes and risk for bladder cancer in Tunisian population.

Hemissi I et al.

Molecular Genetics & Genomic Medicine, 2021

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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."