Varaico: Literature-Extracted Genetic Variants

Gene:CFHR2
Variant:p.E199*
Back to variants list

CFHR2

NM_005666.4:p.E199*

Associated Papers

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

Thrombotic Microangiopathy After Kidney Transplantation: Insights Into Genetic Etiology and Clinical Outcomes.

Merzkani M et al.

Kidney International Reports, 2025

40303217 (PubMed )
Supplement: mmc1.pdf

Factor H-related 2 levels dictate FHR dimer composition.

Veuskens BRJ et al.

Scientific Reports, 2025

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

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

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7
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."