Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.S1619R
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C3

NM_000064.4:p.S1619R

Associated Papers

Whole-Exome Sequencing of Total Joint Arthroplasty Patients Who Have Known Pulmonary Embolism: A Pilot Study.

Mayfield CK et al.

The Journal of Arthroplasty, 2026

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Michell-Robinson MA et al.

Hgg Advances, 2025

40684265 (PubMed )
Supplement: mmc3.xlsx › S2

Late Onset Thrombotic Microangiopathy in Kidney Transplants; Poor Outcome Despite Eculizumab Treatment.

Glover EK et al.

Transplant International : Official Journal of the European Society for Organ Transplantation, 2025

41368132 (PubMed )
Supplement: Table1.xlsx › Data

C3 molecular structural and histopathological analyses in a pediatric case of atypical hemolytic uremic syndrome with life-threatening gastrointestinal bleeding-a case report.

Enya T et al.

Frontiers in Pediatrics, 2025

Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.

Acar IE et al.

Investigative Ophthalmology & Visual Science, 2023

37975850 (PubMed )
Supplement: iovs-64-14-24_s003.xlsx › Supplementary_Table_15

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s006.xlsx › Blad_1

Molecular Genetic Mechanisms in Age-Related Macular Degeneration.

Shughoury A et al.

Genes, 2022

Genetic Risk in Families with Age-Related Macular Degeneration.

de Breuk A et al.

Ophthalmology Science, 2021

Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.

de Breuk A et al.

Jama Ophthalmology, 2021

34647987 (PubMed )
Supplement: jamaophthalmol-e214102-s001.pdf

Complement in Secondary Thrombotic Microangiopathy.

Palma LMP et al.

Kidney International Reports, 2021

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ et al.

Clinical Genetics, 2018

29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S3.xlsx › C3

Analysis of C3 Gene Variants in Patients With Idiopathic Recurrent Spontaneous Pregnancy Loss.

Mohlin FC et al.

Frontiers in Immunology, 2018

Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine.

Maugeri A et al.

Biomed Research International, 2018

Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential.

Dowen F et al.

Clinical Kidney Journal, 2017

The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Geerlings MJ et al.

Molecular Immunology, 2017

Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.

Forneris F et al.

The Embo Journal, 2016

27013439 (PubMed )
Supplement: EMBJ-35-1133-s001.pdf

[The genetic variability of complement system in pathogenesis of age-related macular degeneration].

Kubicka-Trząska A et al.

Klinika Oczna, 2015

Genetic variants in the complement system predisposing to age-related macular degeneration: a review.

Schramm EC et al.

Molecular Immunology, 2014

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Bu F et al.

Journal of the American Society of Nephrology : Jasn, 2014

Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.

Duvvari MR et al.

Plos One, 2014

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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."