Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.E1198K
Back to variants list

CFH

NM_000186.4:p.E1198K

Associated Papers

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ et al.

Clinical Genetics, 2018

29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › CFH

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.

Cantsilieris S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Structural basis for sialic acid-mediated self-recognition by complement factor H.

Blaum BS et al.

Nature Chemical Biology, 2015

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

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Bu F et al.

Journal of the American Society of Nephrology : Jasn, 2014

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Genetics and complement in atypical HUS.

Kavanagh D et al.

Pediatric Nephrology (berlin, Germany), 2010

Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.

de Córdoba SR et al.

Clinical and Experimental Immunology, 2008

Translational mini-review series on complement factor H: structural and functional correlations for factor H.

Schmidt CQ et al.

Clinical and Experimental Immunology, 2008

The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.

Saunders RE et al.

Human Mutation, 2007

Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome.

Vaziri-Sani F et al.

Kidney International, 2006

Atypical haemolytic uraemic syndrome.

Kavanagh D et al.

British Medical Bulletin, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."