Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.A431T
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CFI

NM_000204.5:p.A431T

Associated Papers

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

Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank.

Tzoumas N et al.

Human Molecular Genetics, 2022

Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.

Khan AH et al.

Human Mutation, 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_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

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis.

Broderick L et al.

Journal of Clinical Immunology, 2013

Complement factor I in health and disease.

Nilsson SC et al.

Molecular Immunology, 2011

Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome.

Bienaime F et al.

Kidney International, 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."