Varaico: Literature-Extracted Genetic Variants

Gene:CR2
Variant:p.W766*
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CR2

NM_001006658.3:p.W766*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.

Pinc Z et al.

Journal of Clinical Immunology, 2025

41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final

CD21 deficiency in 2 siblings and frequency of the associated mutation in the Danish population.

Haunstrup TM et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38817346 (PubMed )
Supplement: mmc1.docx

Identification of a novel mutation in complement receptor 2 in Chinese familial systemic lupus erythematosus.

Tang Y et al.

Archives of Rheumatology, 2022

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

de Valles-Ibáñez G et al.

Frontiers in Immunology, 2018

29867916 (PubMed )
Supplement: data_sheet_1.PDF

CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities.

Wentink MW et al.

Clinical Immunology (orlando, Fla.), 2015

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_S1

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

New facets of antibody deficiencies.

Liadaki K et al.

Current Opinion in Immunology, 2013

Genetic CD21 deficiency is associated with hypogammaglobulinemia.

Thiel J et al.

The Journal of Allergy and Clinical Immunology, 2012

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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."