IL36RN c.140A>G ;(p.N47S)

Variant ID: 2-113819725-A-G

NM_012275.2(IL36RN):c.140A>G;(p.N47S)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
Publication Date: 2022

Variant appearance in text: IL36RN: N47S
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



Role of Interleukin 36 in Generalised Pustular Psoriasis and Beyond.

Dermatology And Therapy
Sugiura, Kazumitsu K
Publication Date: 2022-02

Variant appearance in text: IL36RN: 140A>G
PubMed Link: 35060076
Variant Present in the following documents:
  • Main text
  • 13555_2021_Article_677.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: IL36RN: 140A>G; N47S; rs28938777
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: 140A>G; Asn47Ser
PubMed Link: 33955502
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: IL36RN: N47S; rs28938777
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Association between mutation of interleukin 36 receptor antagonist and generalized pustular psoriasis: A PRISMA-compliant systematic review and meta-analysis.

Medicine
Liu, Zhi-Jie ZJ; Tian, Yu-Tong YT; Shi, Bo-Yi BY; Zhou, Yin Y; Jia, Xue-Song XS
Publication Date: 2020-11-06

Variant appearance in text: IL36RN: 140A>G
PubMed Link: 33157966
Variant Present in the following documents:
  • Main text
  • medi-99-e23068.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: IL36RN: N47S; rs28938777
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Lack of association between mutation in IL36RN and palmoplantar pustular psoriasis in Chinese patients.

Anais Brasileiros De Dermatologia
Xiaoling, Yu Y; Dan, Shu S; Hongzhong, Jin J
Publication Date: 2019

Variant appearance in text: IL36RN: 140A>G; Asn47Ser
PubMed Link: 31789248
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: IL36RN: N47S
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 52
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 46
View BVdb publication page



Genetic polymorphism of IL36RN in Han patients with generalized pustular psoriasis in Sichuan region of China: A case-control study.

Medicine
Li, Zhongtao Z; Yang, Qianyi Q; Wang, Sheng S
Publication Date: 2018-08

Variant appearance in text: IL36RN: 140A>G; Asn47Ser; rs28938777
PubMed Link: 30075588
Variant Present in the following documents:
  • Main text
  • medi-97-e11741.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs28938777
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: IL36RN: N47S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: IL36RN: N47S; rs28938777
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page