Varaico: Literature-Extracted Genetic Variants

Gene:IL36RN
Variant:p.T123R
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IL36RN

NM_012275.3:p.T123R

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

IL-36RN gene: key insights into its role in pediatric pustular psoriasis pathogenesis and treatment.

Wang Y et al.

Frontiers in Pediatrics, 2025

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

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

Prevalence, comorbidities and mortality of generalized pustular psoriasis: A literature review.

Prinz JC et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

An update on genetic basis of generalized pustular psoriasis (Review).

Zhou J et al.

International Journal of Molecular Medicine, 2021

Codeine-induced acute generalized exanthematous pustulosis without IL36RN mutations.

Chadli Z et al.

Pharmacogenomics, 2018

Clinical profiles of pediatric patients with GPP alone and with different IL36RN genotypes.

Wang Y et al.

Journal of Dermatological Science, 2017

Mutation analysis of IL36RN gene in Japanese patients with palmoplantar pustulosis.

Takahashi T et al.

The Journal of Dermatology, 2017

IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.

Tauber M et al.

The Journal of Investigative Dermatology, 2016

A tale of two sisters: identical IL36RN mutations and discordant phenotypes.

Rajan N et al.

The British Journal of Dermatology, 2016

Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients.

Wang TS et al.

Archives of Dermatological Research, 2016

IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis.

Hussain S et al.

The Journal of Allergy and Clinical Immunology, 2015

IL36RN gene analysis of two Japanese patients with generalized pustular psoriasis.

Shiratori T et al.

International Journal of Dermatology, 2015

Novel IL36RN gene mutation revealed by analysis of 8 Japanese patients with generalized pustular psoriasis.

Hayashi M et al.

Journal of Dermatological Science, 2014

The genetic background of generalized pustular psoriasis: IL36RN mutations and CARD14 gain-of-function variants.

Sugiura K

Journal of Dermatological Science, 2014

Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris.

Li M et al.

The Journal of Investigative Dermatology, 2013

Novel IL36RN mutation in a Japanese case of early onset generalized pustular psoriasis.

Kanazawa N et al.

The Journal of Dermatology, 2013

Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.

Farooq M et al.

Human Mutation, 2013

Acrodermatitis continua of Hallopeau is a clinical phenotype of DITRA: evidence that it is a variant of pustular psoriasis.

Abbas O et al.

Dermatology (basel, Switzerland), 2013

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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."