Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.P314L
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C3

NM_000064.4:p.P314L

Associated Papers

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

Bocanegra V et al.

Pediatric Nephrology (berlin, Germany), 2025

Individualised therapeutic approach to the patient with atypical haemolytic-uraemic syndrome.

Mikačić I et al.

Clinical Medicine (london, England), 2024

Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.

Beltcheva O et al.

Nephron, 2024

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

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

C3 Gene Functional Polymorphisms and C3 Serum Levels in Patients with Rheumatoid Arthritis.

Sena L et al.

Immunological Investigations, 2021

SARS-CoV-2 associated Complement genetic variants possibly deregulate the activation of the Alternative pathway affecting the severity of infection.

Tsiftsoglou SA

Molecular Immunology, 2021

Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)-A Series of Cases from a Single Family.

Furmańczyk-Zawiska A et al.

Journal of Personalized Medicine, 2021

Complement Genetic Variants and FH Desialylation in S. pneumoniae-Haemolytic Uraemic Syndrome.

Gómez Delgado I et al.

Frontiers in Immunology, 2021

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.

Levine AP et al.

Journal of the American Society of Nephrology : Jasn, 2020

Hepatitis B Virus Infection Among Leprosy Patients: A Case for Polymorphisms Compromising Activation of the Lectin Pathway and Complement Receptors.

Boldt ABW et al.

Frontiers in Immunology, 2020

33643280 (PubMed )
Supplement: Table_11.docx

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

Valoti E et al.

Frontiers in Immunology, 2019

Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.

Huang L et al.

Journal of Human Genetics, 2018

Diseases of complement dysregulation-an overview.

Wong EKS et al.

Seminars in Immunopathology, 2018

Analysis of C3 Gene Variants in Patients With Idiopathic Recurrent Spontaneous Pregnancy Loss.

Mohlin FC et al.

Frontiers in Immunology, 2018

AMD and the alternative complement pathway: genetics and functional implications.

Tan PL et al.

Human Genomics, 2016

Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.

Forneris F et al.

The Embo Journal, 2016

27013439 (PubMed )
Supplement: EMBJ-35-1133-s001.pdf

Update on C3 glomerulopathy.

Barbour TD et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016

Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome.

Zhang T et al.

American Journal of Nephrology, 2016

Nonsynonymous single nucleotide polymorphisms in the complement component 3 gene are associated with risk of age-related macular degeneration: a meta-analysis.

Qian-Qian Y et al.

Gene, 2015

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

Szarvas N et al.

Italian Journal of Pediatrics, 2014

Gender specific association of a complement component 3 polymorphism with polypoidal choroidal vasculopathy.

Liu K et al.

Scientific Reports, 2014

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.

Wong EK et al.

Journal of the American Society of Nephrology : Jasn, 2014

New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.

Rodriguez E et al.

Bioscience Reports, 2014

Complement C3 and its polymorphism: biological and clinical consequences.

Delanghe JR et al.

Pathology, 2014

Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.

Duvvari MR et al.

Plos One, 2014

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.

Helgason H et al.

Nature Genetics, 2013

Seven new loci associated with age-related macular degeneration.

Fritsche LG et al.

Nature Genetics, 2013

23455636 (PubMed )
Supplement: NIHMS474886-supplement-1.pdf

Common polymorphisms in the complement system and susceptiblity to bacterial meningitis.

Adriani KS et al.

The Journal of Infection, 2013

The complotype: dictating risk for inflammation and infection.

Harris CL et al.

Trends in Immunology, 2012

Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.

Kim SJ et al.

Experimental Eye Research, 2012

[Interaction of susceptibility genes in patients with exudative age-related macular degeneration].

Liang X et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012

Allelic variants of complement genes associated with dense deposit disease.

Abrera-Abeleda MA et al.

Journal of the American Society of Nephrology : Jasn, 2011

Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.

McKay GJ et al.

Molecular Vision, 2010

Noncoding variant in the complement factor H gene and risk of exudative age-related macular degeneration in a Chinese population.

Cui L et al.

Investigative Ophthalmology & Visual Science, 2010

Complement component 3 polymorphisms interact with polyunsaturated fatty acids to modulate risk of metabolic syndrome.

Phillips CM et al.

The American Journal of Clinical Nutrition, 2009

Complement component 3 (C3) haplotypes and risk of advanced age-related macular degeneration.

Park KH et al.

Investigative Ophthalmology & Visual Science, 2009

Complement component C3 and risk of age-related macular degeneration.

Despriet DD et al.

Ophthalmology, 2009

Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.

Park KH et al.

Molecular Vision, 2009

Evaluation of the children with C3 glomerulopathy.

Pinarbasi AS et al.

Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 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.10-s10.xlsx › Supplementary_table_8
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