Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.C467R
Back to variants list

CFI

NM_000204.5:p.C467R

Associated Papers

Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel cases.

Rajabi E et al.

Bmc Immunology, 2025

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

Hallam TM et al.

Immunobiology, 2023

Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Seddon JM et al.

Ophthalmology Science, 2023

36909148 (PubMed )
Supplement: mmc1.pdf

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

de Jong S et al.

Human Molecular Genetics, 2020

Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.

El Sissy C et al.

Frontiers in Immunology, 2019

31440263 (PubMed )
Supplement: Table_1.DOCX

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

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

27939104 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-1.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."