Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.Y72H
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CYBA

NM_000101.4:p.Y72H

Associated Papers

Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Airoldi M et al.

Biomolecules, 2025

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Lyn

Association between rs4673 and blood pressure response to acute saline infusion in Chinese population.

Wang H et al.

Medicine, 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

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Lyn

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 analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

Role of Pharmacogenetics in the Treatment of Acute Myeloid Leukemia: Systematic Review and Future Perspectives.

Pinto-Merino Á et al.

Pharmaceutics, 2022

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

Bacillus Calmette-Guérin (BCG) Infections at High Frequency in Both AR-CGD and X-CGD Patients Following BCG Vaccination.

Ishikawa T et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2021

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.

van Deuren RC et al.

Genome Medicine, 2021

34034819 (PubMed )
Supplement: 13073_2021_907_MOESM1_ESM.xlsx › Table_S3

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM15_ESM.xlsx › Supplementary_Data_12

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Nagasawa S et al.

Communications Biology, 2021

33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM5_ESM.xlsx › CaseB

Association of Genes Related to Oxidative Stress with the Extent of Coronary Atherosclerosis.

Racis M et al.

Life (basel, Switzerland), 2020

Colitis susceptibility in mice with reactive oxygen species deficiency is mediated by mucus barrier and immune defense defects.

Aviello G et al.

Mucosal Immunology, 2019

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.

Lipinski S et al.

Cold Spring Harbor Molecular Case Studies, 2019

Oxidative Stress-Related Gene Polymorphisms Are Associated With Hepatitis B Virus-Induced Liver Disease in the Northern Chinese Han Population.

Ma N et al.

Frontiers in Genetics, 2019

Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.

Denson LA et al.

Gastroenterology, 2018

NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.

Wang B et al.

Scientific Reports, 2018

29662108 (PubMed )
Supplement: 41598_2018_24286_MOESM1_ESM.pdf

A Case-Control Study of the Genetic Variability in Reactive Oxygen Species-Metabolizing Enzymes in Melanoma Risk.

Yuan TA et al.

International Journal of Molecular Sciences, 2018

The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.

Sun J et al.

Bmc Medical Genetics, 2017

Association analysis of rs1049255 and rs4673 transitions in p22phox gene with coronary artery disease: A case-control study and a computational analysis.

Mazaheri M et al.

Irish Journal of Medical Science, 2017

How gene polymorphisms can influence clinical response and toxicity following R-CHOP therapy in patients with diffuse large B cell lymphoma.

Falduto A et al.

Blood Reviews, 2017

Metastatic triple-negative breast cancer patient with TP53 tumor mutation experienced 11 months progression-free survival on bortezomib monotherapy without adverse events after ending standard treatments with grade 3 adverse events.

Meißner T et al.

Cold Spring Harbor Molecular Case Studies, 2017

Validating the pharmacogenomics of chemotherapy-induced cardiotoxicity: What is missing?

Magdy T et al.

Pharmacology & Therapeutics, 2016

CYBA encoding p22(phox), the cytochrome b558 alpha polypeptide: gene structure, expression, role and physiopathology.

Stasia MJ

Gene, 2016

Molecular Classification and Pharmacogenetics of Primary Plasma Cell Leukemia: An Initial Approach toward Precision Medicine.

Simeon V et al.

International Journal of Molecular Sciences, 2015

26263974 (PubMed )
Supplement: ijms-16-17514-s001.pdf

Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.

John SE et al.

Genomics Data, 2015

Genetic determinants of arterial stiffness.

Logan JG et al.

Journal of Cardiovascular Translational Research, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AO-A03R-01A.domain

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

Evolutionary dynamics of the human NADPH oxidase genes CYBB, CYBA, NCF2, and NCF4: functional implications.

Tarazona-Santos E et al.

Molecular Biology and Evolution, 2013

No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients.

Weiss J et al.

Molecular Vision, 2012

Polymorphisms of genes in nitric oxide-forming pathway associated with ischemic stroke in Chinese Han population.

Yan JT et al.

Acta Pharmacologica Sinica, 2011

Polymorphisms in oxidative stress-related genes and postmenopausal breast cancer risk.

Seibold P et al.

International Journal of Cancer, 2011

Invariant local conformation in p22phox p.Y72H polymorphisms suggested by mass spectral analysis of crosslinked human neutrophil flavocytochrome b.

Taylor RM et al.

Biochimie, 2011

Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

Unknown Author

Plos Genetics, 2011

21966275 (PubMed )
Supplement: pgen.1002260.s008.pdf

CYBA Gene Polymorphisms and Adverse Outcomes in Acute Kidney Injury: A Prospective Cohort Study.

Perianayagam MC et al.

Nephron Extra, 2011

Exploring epistatic relationships of NO biosynthesis pathway genes in susceptibility to CHD.

Tu YC et al.

Acta Pharmacologica Sinica, 2010

A CETP polymorphism improves the diagnostic power of clinical examination in patients with cardiovascular disease.

Erzberger P et al.

Swiss Medical Weekly, 2010

Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.

Bedard K et al.

Human Mutation, 2009

Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.

Wang SS et al.

The Journal of Infectious Diseases, 2009

Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma.

Wang SS et al.

Carcinogenesis, 2006

Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.

Savas S et al.

Human Genomics, 2006

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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."