IL36RN c.280G>T ;(p.E94*)

Variant ID: 2-113820066-G-T

NM_012275.2(IL36RN):c.280G>T;(p.E94*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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

International Journal Of Molecular Medicine
Zhou, Jiahong J; Luo, Qing Q; Cheng, Yang Y; Wen, Xia X; Liu, Jinbo J
Publication Date: 2021-06

Variant appearance in text: IL36RN: 280G>T; Glu94X
PubMed Link: 33955502
Variant Present in the following documents:
  • Main text
View BVdb publication page



"Autoinflammatory psoriasis"-genetics and biology of pustular psoriasis.

Cellular & Molecular Immunology
Uppala, Ranjitha R; Tsoi, Lam C LC; Harms, Paul W PW; Wang, Bo B; Billi, Allison C AC; Maverakis, Emanual E; Michelle Kahlenberg, J J; Ward, Nicole L NL; Gudjonsson, Johann E JE
Publication Date: 2021-02

Variant appearance in text: IL36RN: Glu94X
PubMed Link: 32814870
Variant Present in the following documents:
  • Main text
View BVdb publication page



Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology
Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A
Publication Date: 2017

Variant appearance in text: IL36RN: 280G>T
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
  • fimmu-08-00344.pdf
View BVdb publication page



Generalized pustular psoriasis with a novel mutation of interleukin-36 receptor antagonist, responding to methotrexate.

Jaad Case Reports
Teoh, Yee-Leng YL; Tay, Yong-Kwang YK
Publication Date: 2015-03

Variant appearance in text: IL36RA: Glu94X
PubMed Link: 27051681
Variant Present in the following documents:
  • main.pdf
View BVdb publication page