Varaico: Literature-Extracted Genetic Variants

Gene:CFHR5
Variant:p.E163fs
Back to variants list

CFHR5

NM_030787.4:p.E163fs

Associated Papers

Genetic determinants of the complement and coagulation pathways in invasive meningococcal disease.

Bellos E et al.

The Journal of Allergy and Clinical Immunology, 2025

Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.

Bayanova M et al.

Bmc Nephrology, 2025

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Hitti-Malin RJ et al.

Biomolecules, 2024

38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S10-Mono-allelic_variants_in_probands_considered_not_solved.xlsx › Sheet1

Low factor H-related 5 levels contribute to infection-triggered haemolytic uraemic syndrome and membranoproliferative glomerulonephritis.

Gómez Delgado I et al.

Clinical Kidney Journal, 2021

Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy.

Guzzo G et al.

Frontiers in Genetics, 2021

Different Aspects of Classical Pathway Overactivation in Patients With C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis.

Michels MAHM et al.

Frontiers in Immunology, 2021

FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.

Garam N et al.

Frontiers in Immunology, 2021

Outcome of membranoproliferative glomerulonephritis and C3-glomerulopathy in children and adolescents.

Holle J et al.

Pediatric Nephrology (berlin, Germany), 2018

Maternal and Fetal Outcomes of Pregnancies in Women with Atypical Hemolytic Uremic Syndrome.

Gaggl M et al.

Journal of the American Society of Nephrology : Jasn, 2018

Acquired Complement Regulatory Gene Mutations and Hematopoietic Stem Cell Transplant-Related Thrombotic Microangiopathy.

Ardissino G et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2017

Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency.

Vernon KA et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2012

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."