Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.V412M
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CFI

NM_000204.5:p.V412M

Associated Papers

Shiga toxin-producing Escherichia coli infection as a precipitating factor for atypical hemolytic-uremic syndrome.

Mortari G et al.

Pediatric Nephrology (berlin, Germany), 2025

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

Guaschino V et al.

Frontiers in Immunology, 2025

Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.

Hallam TM et al.

The Journal of Biological Chemistry, 2024

38852887 (PubMed )
Supplement: mmc1.docx

Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.

Hallam TM et al.

Immunobiology, 2023

An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.

Jones AV et al.

Plos One, 2022

Effect of rare coding variants in the CFI gene on Factor I expression levels.

de Jong S et al.

Human Molecular Genetics, 2020

Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration.

Hallam TM et al.

Investigative Ophthalmology & Visual Science, 2020

Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.

Shoshany N et al.

Genes, 2019

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 › CFI

C3 glomerulonephritis and thrombotic microangiopathy of renal allograft after pulmonary infection in a male with concomitant two complement factor I gene variations: a case report.

Wen J et al.

Bmc Nephrology, 2018

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

Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.

Pras E et al.

Journal of Medical Genetics, 2015

Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri.

Brocklebank V et al.

Clinical Kidney Journal, 2014

Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations.

Alberti M et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2013

Latest Development on Genetics of Common Retinal Diseases.

Chen LJ et al.

Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0

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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."