Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.E142Q
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CD46

NM_172351.3:p.E142Q

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

"Eculizumab First" in the Management of Posttransplant Thrombotic Microangiopathy.

Maritati F et al.

Kidney International Reports, 2024

Mutations in the alternative complement pathway in multiple myeloma patients with carfilzomib-induced thrombotic microangiopathy.

Moscvin M et al.

Blood Cancer Journal, 2023

Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.

Acosta-Medina AA et al.

Blood Advances, 2023

35533258 (PubMed )
Supplement: BLOODA_ADV-2021-006416-mmc1.pdf

Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Gavriilaki E et al.

Current Issues in Molecular Biology, 2022

35877417 (PubMed )
Supplement: cimb-44-00193-s001.zip › cimb-1755355-supplementary.xlsx › AP_and_LP_variant_comparisons

Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis.

Garam N et al.

Clinical Kidney Journal, 2020

32296528 (PubMed )
Supplement: sfz073_supplementary_data.pdf

C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy.

Garam N et al.

Orphanet Journal of Rare Diseases, 2019

31703608 (PubMed )
Supplement: 13023_2019_1237_MOESM1_ESM.docx

Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.

Szarvas N et al.

Molecular Immunology, 2016

Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients.

Mohlin FC et al.

Molecular Immunology, 2015

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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."