Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.R448C
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CFI

NM_000204.5:p.R448C

Associated Papers

Disease Progression in Age-Related Macular Degeneration Patients Carrying Rare Variants in the Complement Factor H or Complement Factor I Genes.

Cinque F et al.

Investigative Ophthalmology & Visual Science, 2025

41222198 (PubMed )
Supplement: iovs-66-14-23_s002.xlsx › Sheet1

Functional evaluation of rare variants in complement factor I using a minigene assay.

Donelson CJH et al.

Frontiers in Immunology, 2024

39238643 (PubMed )
Supplement: Datasheet1.pdf

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

Hallam TM et al.

Immunobiology, 2023

Complement Factor I Variants in Complement-Mediated Renal Diseases.

Zhang Y et al.

Frontiers in Immunology, 2022

Genetic Risk in Families with Age-Related Macular Degeneration.

de Breuk A et al.

Ophthalmology Science, 2021

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_S3.xlsx › CFI

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.

Tan PL et al.

Investigative Ophthalmology & Visual Science, 2017

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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."