Varaico: Literature-Extracted Genetic Variants

Gene:CFB
Variant:p.R32W
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CFB

NM_001710.6:p.R32W

Associated Papers

The role of the complement system in Shiga toxin-associated hemolytic uremic syndrome.

Bocanegra V et al.

Pediatric Nephrology (berlin, Germany), 2025

Shiga toxin-producing Escherichia coli infection as a precipitating factor for atypical hemolytic-uremic syndrome.

Mortari G et al.

Pediatric Nephrology (berlin, Germany), 2025

Factor B as a therapeutic target for the treatment of complement-mediated diseases.

Kavanagh D et al.

Frontiers in Immunology, 2025

Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?

Günay N et al.

Pediatric Nephrology (berlin, Germany), 2024

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review.

Turudic D et al.

International Journal of Molecular Sciences, 2023

Targeted genotyping of COVID-19 patients reveals a signature of complement C3 and factor B coding SNPs associated with severe infection.

Tsiftsoglou SA et al.

Immunobiology, 2023

Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis.

Han Y et al.

Nature Communications, 2023

36828809 (PubMed )
Supplement: 41467_2023_36678_MOESM12_ESM.xlsx › Table_S9

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

MCPggaac haplotype is associated with poor graft survival in kidney transplant recipients with de novo thrombotic microangiopathy.

Petr V et al.

Frontiers in Immunology, 2022

Functional variant rs12614 in CFB confers a low risk of IgA nephropathy by attenuating complement alternative pathway activation in Han Chinese.

Shi DC et al.

Frontiers in Immunology, 2022

Complement in Secondary Thrombotic Microangiopathy.

Palma LMP et al.

Kidney International Reports, 2021

A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.

Seo JY et al.

Bmc Medical Genetics, 2020

Complement factor B gene polymorphisms and risk of age-related macular degeneration: A meta-analysis.

Su Y et al.

European Journal of Ophthalmology, 2020

Functional Evaluation of AMD-Associated Risk Variants of Complement Factor B.

Pilotti C et al.

Investigative Ophthalmology & Visual Science, 2020

CFH and CFB mutations in Shiga toxin-associated haemolytic uraemic syndrome in a 6-year-old boy.

Çelakil ME et al.

Paediatrics and International Child Health, 2020

A missense variant in complement factor B (CFB) is a potential predictor of 24-week off-treatment response to PegIFNα therapy in Chinese HBeAg-positive chronic hepatitis B patients.

Chen H et al.

Alimentary Pharmacology & Therapeutics, 2020

Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.

Valoti E et al.

Frontiers in Immunology, 2019

Treating C3 glomerulopathy with eculizumab.

Welte T et al.

Bmc Nephrology, 2018

29329521 (PubMed )
Supplement: 12882_2017_802_MOESM1_ESM.docx

Diseases of complement dysregulation-an overview.

Wong EKS et al.

Seminars in Immunopathology, 2018

ADAMTS13 missense variants associated with defective activity and secretion of ADAMTS13 in a patient with non-cirrhotic portal hypertension.

Goel A et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2017

Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population.

Momozawa Y et al.

Human Molecular Genetics, 2016

Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.

Szarvas N et al.

Molecular Immunology, 2016

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

Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.

Jiang DK et al.

Hepatology (baltimore, Md.), 2015

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-A07L-01A.domain

First-line therapy in atypical hemolytic uremic syndrome: consideration on infants with a poor prognosis.

Szarvas N et al.

Italian Journal of Pediatrics, 2014

Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?

Marinozzi MC et al.

Journal of the American Society of Nephrology : Jasn, 2014

Complement factor B polymorphism and the phenotype of early age-related macular degeneration.

Mantel I et al.

Ophthalmic Genetics, 2014

Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome.

Fan X et al.

Molecular Immunology, 2013

Re: "The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis".

Hughes AE et al.

American Journal of Epidemiology, 2013

The complotype: dictating risk for inflammation and infection.

Harris CL et al.

Trends in Immunology, 2012

Complement factor B polymorphism 32W protects against age-related macular degeneration.

Hughes AE et al.

Molecular Vision, 2011

The molecular genetic basis of age-related macular degeneration: an overview.

Katta S et al.

Journal of Genetics, 2009

Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology.

Kondo N et al.

Ophthalmology, 2009

Systemic complement activation in age-related macular degeneration.

Scholl HP et al.

Plos One, 2008

18596911 (PubMed )
Supplement: pone.0002593.s001.pdf

Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration.

Spencer KL et al.

Human Molecular Genetics, 2007

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.

Gold B et al.

Nature Genetics, 2006

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

Kavanagh D et al.

Molecular Immunology, 2006

Complement C3, C2, and factor B gene polymorphisms and age-related macular degeneration in a Greek cohort study.

Havvas I et al.

European Journal of Ophthalmology, 0

A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review.

Peng W et al.

Case Reports in Nephrology and Dialysis, 0

41064627 (PubMed )
Supplement: Supplementary_material-Suppl.9-s9.xlsx › Supplementary_table_7
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