Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.Q1161K
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C3

NM_000064.4:p.Q1161K

Associated Papers

Pegcetacoplan in idiopathic and familial pediatric C3 glomerulopathy.

Román Ortiz E et al.

Pediatric Nephrology (berlin, Germany), 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

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Martín Merinero H et al.

Blood, 2021

The Relevance of the MCP Risk Polymorphism to the Outcome of aHUS Associated With C3 Mutations. A Case Report.

Lumbreras J et al.

Frontiers in Immunology, 2020

Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice.

Smith-Jackson K et al.

The Journal of Clinical Investigation, 2019

30714990 (PubMed )
Supplement: jci-129-99296-s152.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_S4.xlsx › C3

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 role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.

Phillips EH et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome.

Martínez-Barricarte R et al.

Molecular Immunology, 2015

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

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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."