Varaico: Literature-Extracted Genetic Variants

Gene:CFB
Variant:p.G252S
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CFB

NM_001710.6:p.G252S

Associated Papers

Unraveling complement activation profiles on endothelial cells in healthy donors using an ex vivo model.

Duval A et al.

Clinical and Experimental Immunology, 2026

Exonic Variation in HLA-C, CFB, and TAP2 Associated With Increased Risk for Comorbid Crohn's Disease and Psoriasis.

Shaw VR et al.

International Journal of Dermatology, 2025

Genetic Variation in the Alternative Complement Pathway Contributes to Individual Susceptibility to Bacteremia and Sepsis.

Inman K et al.

Critical Care Explorations, 2025

Genetic coding variant in complement factor B (CFB) is associated with increased risk for perianal Crohn's disease and leads to impaired CFB cleavage and phagocytosis.

Akhlaghpour M et al.

Gut, 2023

Spatial Distribution of Missense Variants within Complement Proteins Associates with Age Related Macular Degeneration.

Grunin M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Gavriilaki E et al.

Current Issues in Molecular Biology, 2022

35877417 (PubMed )
Supplement: cimb-44-00193-s001.zip › cimb-1755355-supplementary.xlsx › AP_and_LP_variant_comparisons

Quantitative Alterations in Complement Alternative Pathway and Related Genetic Analysis in Severe Phenotype Preeclampsia.

Alrahmani L et al.

Kidney360, 2021

The use of eculizumab in Capnocytophaga canimorsus associated thrombotic microangiopathy: a case report.

Bjørkto MH et al.

Bmc Infectious Diseases, 2021

Genetic and molecular evidence for complement dysregulation in patients with HELLP syndrome.

Bazzan M et al.

Thrombosis Research, 2020

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Osborne AJ et al.

Journal of Immunology (baltimore, Md. : 1950), 2018

A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility.

Gupta A et al.

European Journal of Human Genetics : Ejhg, 2016

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0A9-01A.domain

The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome.

Szilágyi A et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013

Analysis of candidate genes for macular telangiectasia type 2.

Parmalee NL et al.

Molecular Vision, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Does complement factor B have a role in the pathogenesis of atypical HUS?

Kavanagh D et al.

Molecular Immunology, 2006

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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."