Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BP2
Variant:p.Q540*
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IRF2BP2

NM_182972.3:p.Q540*

Associated Papers

An IRF2BP2 Variant in a Pediatric Patient with Common Variable Immunodeficiency.

Tekcan D et al.

Pediatric Allergy, Immunology, and Pulmonology, 2025

IRF2BP2 deficiency: An important form of common variable immunodeficiency with inflammation.

Udemgba C et al.

The Journal of Allergy and Clinical Immunology, 2025

IRF2BP2 binds to a conserved RxSVI motif of protein partners and regulates megakaryocytic differentiation.

Wang G et al.

Nature Communications, 2024

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Schmidt A et al.

Nature Genetics, 2024

39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1

Novel mutation and expanding phenotype in IRF2BP2 deficiency.

Körholz J et al.

Rheumatology (oxford, England), 2023

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc3.xlsx › BrM74

Case Report: A novel IRF2BP2 mutation in an IEI patient with recurrent infections and autoimmune disorders.

Pan Y et al.

Frontiers in Immunology, 2023

Novel frameshift variants expand the map of the genetic defects in IRF2BP2.

García-Aznar JM et al.

Frontiers in Immunology, 2023

Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2021

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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."