Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BP2
Variant:p.A209_A222delFs
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IRF2BP2

NM_182972.3:p.A209_A222delFs

Associated Papers

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

Udemgba C et al.

The Journal of Allergy and Clinical Immunology, 2025

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Muret K et al.

International Journal of Molecular Sciences, 2024

39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Table_S1.xlsx › Data

IRF2BP2 Mutation Is Associated with Increased STAT1 and STAT5 Activation in Two Family Members with Inflammatory Conditions and Lymphopenia.

Palmroth M et al.

Pharmaceuticals (basel, Switzerland), 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."