Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.R102G
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C3

NM_000064.4:p.R102G

Associated Papers

Clinical and Multimodal Imaging Findings in Extensive Macular Atrophy with Pseudodrusen (EMAP): A Systematic Review and Meta-Analysis.

Arruda MP et al.

American Journal of Ophthalmology, 2026

Hierarchical clustering uncovered disease patterns and further untangled complexities in immune complex-mediated idiopathic MPGN and C3 glomerulopathy.

Benigni A et al.

Kidney International, 2026

Gene-Environment Interaction: Lessons From Complement-Mediated Kidney Disease.

Klomjit N et al.

Seminars in Nephrology, 2025

Acquired and genetic drivers of C3 and C5 convertase dysregulation in C3 glomerulopathy and immunoglobulin-associated MPGN.

Roquigny J et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025

The role of the complement system in Shiga toxin-associated hemolytic uremic syndrome.

Bocanegra V et al.

Pediatric Nephrology (berlin, Germany), 2025

Genotypes of SNPs of key genes regulate susceptibility and drug sensitivity to neovascular AMD in the human population.

Cui J et al.

Bmj Open Ophthalmology, 2025

Relationship of gene polymorphisms for complement components C3 and factor H and kidney allograft function.

Milinkovic M et al.

Bmc Nephrology, 2025

Genetic Variants Related to Increased CKD Progression-A Systematic Review.

Mira FS et al.

Biology, 2025

Impaired complement regulation drives chronic lung allograft dysfunction after lung transplantation.

Kulkarni HS et al.

Biorxiv : the Preprint Server for Biology, 2024

Extensive macular atrophy with pseudodrusen-like appearance: comprehensive review of the literature.

Carlà MM et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024

Genetic factors associated with age-related macular degeneration modulating plasma inflammatory biomarker levels in patients with AIDS.

Sezgin E et al.

Ophthalmic Genetics, 2024

Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.

Kwong A et al.

Human Molecular Genetics, 2024

Family History of Age-Related Macular Degeneration and Genetics Predict Progression to Advanced Age-Related Macular Degeneration Adjusting for Macular Status, Demographic, and Lifestyle Factors.

Seddon JM et al.

American Journal of Ophthalmology, 2023

The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review.

Turudic D et al.

International Journal of Molecular Sciences, 2023

Regulatable Complement Inhibition of the Alternative Pathway Mitigates Wet Age-Related Macular Degeneration Pathology in a Mouse Model.

Parsons NB et al.

Translational Vision Science & Technology, 2023

Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Seddon JM et al.

Ophthalmology Science, 2023

Influence of Genetics on the Response to Omalizumab in Patients with Severe Uncontrolled Asthma with an Allergic Phenotype.

Rojo-Tolosa S et al.

International Journal of Molecular Sciences, 2023

Targeted genotyping of COVID-19 patients reveals a signature of complement C3 and factor B coding SNPs associated with severe infection.

Tsiftsoglou SA et al.

Immunobiology, 2023

Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.

Rodríguez de Córdoba S

Immunological Reviews, 2023

FinnGen provides genetic insights from a well-phenotyped isolated population.

Kurki MI et al.

Nature, 2023

36653562 (PubMed )
Supplement: 41586_2022_5473_MOESM4_ESM.xlsx › Supplementary_Table_8

Extracellular vesicles: an emerging player in retinal homeostasis.

Chatterjee A et al.

Frontiers in Cell and Developmental Biology, 2023

Systems genomics in age-related macular degeneration.

den Hollander AI et al.

Experimental Eye Research, 2022

Association between Polymorphisms in CFH, ARMS2, CFI, and C3 Genes and Response to Anti-VEGF Treatment in Neovascular Age-Related Macular Degeneration.

Kozhevnikova OS et al.

Biomedicines, 2022

Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Gavriilaki E et al.

Current Issues in Molecular Biology, 2022

Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE.

Peters F et al.

International Journal of Molecular Sciences, 2022

MCPggaac haplotype is associated with poor graft survival in kidney transplant recipients with de novo thrombotic microangiopathy.

Petr V et al.

Frontiers in Immunology, 2022

Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.

Acar IE et al.

Journal of Personalized Medicine, 2021

C3 Gene Functional Polymorphisms and C3 Serum Levels in Patients with Rheumatoid Arthritis.

Sena L et al.

Immunological Investigations, 2021

Association of genetic variants rs641153 (CFB), rs2230199 (C3), and rs1410996 (CFH) with age-related macular degeneration in a Brazilian population.

Neto JM et al.

Experimental Biology and Medicine (maywood, N.j.), 2021

Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.

Khan AH et al.

Human Mutation, 2021

SARS-CoV-2 associated Complement genetic variants possibly deregulate the activation of the Alternative pathway affecting the severity of infection.

Tsiftsoglou SA

Molecular Immunology, 2021

Active Rap1-mediated inhibition of choroidal neovascularization requires interactions with IQGAP1 in choroidal endothelial cells.

Ramshekar A et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021

Mitochondria-dependent phase separation of disease-relevant proteins drives pathological features of age-related macular degeneration.

La Cunza N et al.

Jci Insight, 2021

33822768 (PubMed )
Supplement: jciinsight-6-142254-s130.pdf

Advances in the genomics of ANCA-associated vasculitis-a view from East Asia.

Kawasaki A et al.

Genes and Immunity, 2021

Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)-A Series of Cases from a Single Family.

Furmańczyk-Zawiska A et al.

Journal of Personalized Medicine, 2021

Proteomics-based approach for differentiation of age-related macular degeneration sub-types.

Sivagurunathan S et al.

Indian Journal of Ophthalmology, 2021

Single nucleotide polymorphism profiles associated with three common phenotypes of advanced age-related macular degeneration.

Ng CC et al.

Acta Ophthalmologica, 2021

Humanized C3 Mouse: A Novel Accelerated Model of C3 Glomerulopathy.

Devalaraja-Narashimha K et al.

Journal of the American Society of Nephrology : Jasn, 2021

The Influence of Donor and Recipient Complement C3 Polymorphisms on Liver Transplant Outcome.

Pires M et al.

International Journal of Hepatology, 2021

Associations between the Complement System and Choroidal Neovascularization in Wet Age-Related Macular Degeneration.

Jensen EG et al.

International Journal of Molecular Sciences, 2020

Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration.

Seddon JM et al.

Investigative Ophthalmology & Visual Science, 2020

Role of complement factor B rs4151667 (L9H) polymorphisms and its interactional role with CFH Y402H and C3 rs2230199 (R102G) risk variants in age-related macular degeneration: a case control study.

Roshanipour N et al.

Bmc Ophthalmology, 2020

The implication of genetic variation in the complement C3 allotypes on the first-year allograft outcome after live donor liver transplantation.

Awad SM et al.

Transplant Immunology, 2020

Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.

Merle BMJ et al.

Investigative Ophthalmology & Visual Science, 2020

Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis.

Garam N et al.

Clinical Kidney Journal, 2020

32296528 (PubMed )
Supplement: sfz073_supplementary_data.pdf
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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."