Varaico: Literature-Extracted Genetic Variants

Gene:CR2
Variant:p.P175L
Back to variants list

CR2

NM_001006658.3:p.P175L

Associated Papers

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

Tang Y et al.

Archives of Rheumatology, 2022

Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

D'Alterio G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

35511137 (PubMed )
Supplement: mmc1.xls › supplementary_table4

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

Boisson B et al.

The Journal of Experimental Medicine, 2015

26008899 (PubMed )
Supplement: supp_jem.20141130_JEM_20141130_TableS2.xlsx › Sheet1

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Bu F et al.

Journal of the American Society of Nephrology : Jasn, 2014

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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."