Varaico: Literature-Extracted Genetic Variants

Gene:CFHR2
Variant:p.Y264C
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CFHR2

NM_005666.4:p.Y264C

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

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

Factor H-related 2 levels dictate FHR dimer composition.

Veuskens BRJ et al.

Scientific Reports, 2025

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration.

Seddon JM et al.

Frontiers in Genetics, 2023

Drug-induced thrombotic microangiopathy: An updated review of causative drugs, pathophysiology, and management.

Mazzierli T et al.

Frontiers in Pharmacology, 2022

Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.

Lorés-Motta L et al.

American Journal of Human Genetics, 2021

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S5

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

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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."