Varaico: Literature-Extracted Genetic Variants

Gene:CR2
Variant:p.S639N
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CR2

NM_001006658.3:p.S639N

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

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

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

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

Tang Y et al.

Archives of Rheumatology, 2022

Gene testing for osteonecrosis of the femoral head in systemic lupus erythematosus using targeted next-generation sequencing: A pilot study.

Sun HS et al.

World Journal of Clinical Cases, 2020

Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency.

Mat Ripen A et al.

Sage Open Medicine, 2020

Pediatric hyperimmunoglobulin E syndrome: A case series of 4 children in China.

Fan H et al.

Medicine, 2018

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

Maguire SL et al.

The Journal of Pathology, 2016

27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2

Association of Complement Receptor 2 Gene Polymorphisms with Susceptibility to Osteonecrosis of the Femoral Head in Systemic Lupus Erythematosus.

Kim TH et al.

Biomed Research International, 2016

Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing.

Douglas KB et al.

Genes and Immunity, 2009

Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus.

Wu H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

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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."