Varaico: Literature-Extracted Genetic Variants

Gene:IL36RN
Variant:p.V2F
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IL36RN

NM_012275.3:p.V2F

Associated Papers

Interleukin-36 receptor antagonist deficiency patient with a novel mutation.

Sezer M et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2026

Cutaneous findings and treatments in deficiency of interleukin-36 receptor antagonist (DITRA): A review of the literature.

Okorie CL et al.

Experimental Dermatology, 2024

In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex.

Hassi NK et al.

The Journal of Investigative Dermatology, 2023

A viewpoint on the genetic determinants of generalised pustular psoriasis.

Capon F

Experimental Dermatology, 2023

SARS-CoV-2 infection inducing severe flare up of Deficiency of Interleukin Thirty-six (IL-36) Receptor Antagonist (DITRA) resulting from a mutation invalidating the activating cleavage site of the IL-36 receptor antagonist.

Bozonnat A et al.

Journal of Clinical Immunology, 2021

Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome.

Bal E et al.

Experimental Dermatology, 2019

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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."