Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.T162R
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C3

NM_000064.4:p.T162R

Associated Papers

Kidney Transplantation in Patients With aHUS: A Comparison of Eculizumab Prophylaxis Versus Rescue Therapy.

Duineveld C et al.

Transplantation, 2025

39049128 (PubMed )
Supplement: tpa-109-511-s001.pdf

C3d-targeted complement inhibitors to correct complement dysregulation in aHUS patients.

Guaschino V et al.

Frontiers in Immunology, 2025

Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.

Brocklebank V et al.

Blood, 2023

37369098 (PubMed )
Supplement: BLOOD_BLD-2022-018833R2-mmc1.pdf

Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.

Acosta-Medina AA et al.

Blood Advances, 2023

35533258 (PubMed )
Supplement: BLOODA_ADV-2021-006416-mmc1.pdf

An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.

Gastoldi S et al.

Frontiers in Immunology, 2023

C5a and C5aR1 are key drivers of microvascular platelet aggregation in clinical entities spanning from aHUS to COVID-19.

Aiello S et al.

Blood Advances, 2022

Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality.

Ardissino G et al.

Kidney International Reports, 2021

34169201 (PubMed )
Supplement: mmc1.pdf

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

Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.

Gleeson PJ et al.

Immunobiology, 2016

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

Forneris F et al.

The Embo Journal, 2016

Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome.

Zhang T et al.

American Journal of Nephrology, 2016

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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."