Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.W546*
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CFI

NM_000204.5:p.W546*

Associated Papers

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

Hallam TM et al.

Immunobiology, 2023

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

de Jong S et al.

Human Molecular Genetics, 2020

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

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Complement factor I in health and disease.

Nilsson SC et al.

Molecular Immunology, 2011

Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I.

Nilsson SC et al.

European Journal of Immunology, 2010

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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."