Varaico: Literature-Extracted Genetic Variants

Gene:CFB
Variant:p.K565E
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CFB

NM_001710.6:p.K565E

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

Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.

Wąsowska A et al.

Genes, 2023

37761846 (PubMed )
Supplement: genes-14-01707-s001.zip › genes-2482546-supplementary › Supplementary_Table_S1.xlsx › Rare_variants

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7

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

Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population.

Buentello-Volante B et al.

Molecular Vision, 2012

Genetic variation within the HLA class III influences T1D susceptibility conferred by high-risk HLA haplotypes.

Valdes AM et al.

Genes and Immunity, 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 › TypeII_

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."