Varaico: Literature-Extracted Genetic Variants

Gene:C5
Variant:p.V802I
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C5

NM_001735.3:p.V802I

Associated Papers

Association of Carboxypeptidase B2 Gene Polymorphisms With Graft Loss in Kidney Transplantation.

Poppelaars F et al.

Transplantation Direct, 2026

Gene-Environment Interaction: Lessons From Complement-Mediated Kidney Disease.

Klomjit N et al.

Seminars in Nephrology, 2025

Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.

Cao W et al.

Blood Vessels, Thrombosis & Hemostasis, 2024

40765928 (PubMed )
Supplement: BVTH_VTH-2024-000154-mmc1.pdf

The Influence of an Elastase-Sensitive Complement C5 Variant on Lupus Nephritis and Its Flare.

Toy CR et al.

Kidney International Reports, 2021

Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease.

Ozen A et al.

Nature Immunology, 2021

Investigation of Association of Complement 5 Genetic Polymorphisms with Sepsis and Sepsis-Induced Inflammatory Responses.

Chen K et al.

Journal of Inflammation Research, 2021

Evaluation of the association of C5 with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.

Liu K et al.

Eye and Vision (london, England), 2019

Long lasting neutralization of C5 by SKY59, a novel recycling antibody, is a potential therapy for complement-mediated diseases.

Fukuzawa T et al.

Scientific Reports, 2017

Polymorphism of the complement 5 gene is associated with large artery atherosclerosis stroke in Chinese patients.

Wu H et al.

Arquivos De Neuro-psiquiatria, 2016

Response to Comment on "Functional Analysis of a Complement Polymorphism (rs17611) Associated with Rheumatoid Arthritis".

Giles JL et al.

Journal of Immunology (baltimore, Md. : 1950), 2015

Functional analysis of a complement polymorphism (rs17611) associated with rheumatoid arthritis.

Giles JL et al.

Journal of Immunology (baltimore, Md. : 1950), 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-A2-A0CT-01A.domain

Complement dysregulation and disease: from genes and proteins to diagnostics and drugs.

de Cordoba SR et al.

Immunobiology, 2012

The complotype: dictating risk for inflammation and infection.

Harris CL et al.

Trends in Immunology, 2012

Genetic profiling of human cell lines used as in vitro model to study cardiovascular pathophysiology and pharmacotoxicology.

Jeannesson E et al.

Cell Biology and Toxicology, 2009

Complement factor 5 is a quantitative trait gene that modifies liver fibrogenesis in mice and humans.

Hillebrandt S et al.

Nature Genetics, 2005

Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma.

Hasegawa K et al.

Human Genetics, 2004

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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."