Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.S13F
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CD46

NM_172351.3:p.S13F

Associated Papers

A novel dual histone mark reader ZCWPW2 regulates meiotic recombination through lactylation and transcriptional regulation in humans and mice.

Ruan T et al.

Nucleic Acids Research, 2026

41574437 (PubMed )
Supplement: gkag049_supplemental_files.zip › Table_S6.xlsx › Table_S6

Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India.

Aaron R et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2024

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Kernan KF et al.

Journal of Clinical Immunology, 2022

Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.

Yang D et al.

Frontiers in Genetics, 2021

34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1

ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome.

Cheng T et al.

Open Life Sciences, 2021

Association between thrombotic microangiopathy and activated alternative complement pathway in malignant nephrosclerosis.

Zhang Y et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2020

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome.

Zhang T et al.

American Journal of Nephrology, 2016

Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome.

Fan X et al.

Molecular Immunology, 2013

The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome.

Crovetto F et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2012

Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus.

Jönsen A et al.

Arthritis Research & Therapy, 2011

Variations in measles vaccine-specific humoral immunity by polymorphisms in SLAM and CD46 measles virus receptors.

Dhiman N et al.

The Journal of Allergy and Clinical Immunology, 2007

Analysis of measles virus binding sites of the CD46 gene in patients with subacute sclerosing panencephalitis.

Kusuhara K et al.

The Journal of Infectious Diseases, 2000

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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."