AIM2 c.94G>T ;(p.E32*)

Variant ID: 1-159043196-C-A

NM_004833.1(AIM2):c.94G>T;(p.E32*)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Aberrant inflammasome activation as a driving force of human autoimmune skin disease.

Frontiers In Immunology
Fetter, Tanja T; de Graaf, Dennis Marinus DM; Claus, Isabelle I; Wenzel, Joerg J
Publication Date: 2023

Variant appearance in text: rs2276405
PubMed Link: 37325658
Variant Present in the following documents:
  • Main text
  • fimmu-14-1190388.pdf
View BVdb publication page



INFLAMMASOME GENES POLYMORPHISMS ARE ASSOCIATED WITH PROGRESSION TO MECHANICAL VENTILATION AND DEATH IN A COHORT OF HOSPITALIZED COVID-19 PATIENTS IN A REFERENCE HOSPITAL IN RIO DE JANEIRO, BRAZIL.

Gene
Neira-Goulart, Milena M; Beatriz Ramos de Sá, Nathalia N; Ribeiro-Alves, Marcelo M; Perazzo, Hugo H; Mattos Geraldo, Kim K; Pia Diniz Ribeiro, Maria M; Wagner Cardoso, Sandra S; Grinsztejn, Beatriz B; Veloso, Valdiléa G VG; Rodrigues Gomes, Larissa L; da Silva Cazote, Andressa A; Victalina de Almeida, Dalziza D; Beatriz Wagner Giacoia-Gripp, Carmem C; Heloise Côrtes, Fernanda F; Gonçalves Morgado, Mariza M
Publication Date: 2023-03-02

Variant appearance in text: rs2276405
PubMed Link: 36870425
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



AIM2 and Psoriasis.

Frontiers In Immunology
Zhang, Yuxi Y; Xu, Xiaoqing X; Cheng, Hui H; Zhou, Fusheng F
Publication Date: 2023

Variant appearance in text: rs2276405
PubMed Link: 36742336
Variant Present in the following documents:
  • Main text
  • fimmu-14-1085448.pdf
View BVdb publication page



Psoriasis and cardiovascular disease risk in European and East Asian populations: evidence from meta-analysis and Mendelian randomization analysis.

Bmc Medicine
Zhang, Liming L; Wang, Yuxiang Y; Qiu, Li L; Wu, Jian J
Publication Date: 2022-11-01

Variant appearance in text: rs2276405
PubMed Link: 36320003
Variant Present in the following documents:
  • Main text
  • 12916_2022_Article_2617.pdf
View BVdb publication page



Inflammasome genetic variants are associated with tuberculosis, HIV-1 infection, and TB/HIV-immune reconstitution inflammatory syndrome outcomes.

Frontiers In Cellular And Infection Microbiology
de Sá, Nathalia Beatriz Ramos NBR; de Souza, Nara Cristina Silva NCS; Neira-Goulart, Milena M; Ribeiro-Alves, Marcelo M; Da Silva, Tatiana Pereira TP; Pilotto, Jose Henrique JH; Rolla, Valeria Cavalcanti VC; Giacoia-Gripp, Carmem B W CBW; de Oliveira Pinto, Luzia Maria LM; Scott-Algara, Daniel D; Morgado, Mariza Gonçalves MG; Teixeira, Sylvia Lopes Maia SLM
Publication Date: 2022

Variant appearance in text: rs2276405
PubMed Link: 36204643
Variant Present in the following documents:
  • Main text
  • fcimb-12-962059.pdf
View BVdb publication page



Inflammasome Genetic Variants Are Associated with Protection to Clinical Severity of COVID-19 among Patients from Rio de Janeiro, Brazil.

Biomed Research International
de Sá, Nathalia Beatriz Ramos NBR; Neira-Goulart, Milena M; Ribeiro-Alves, Marcelo M; Perazzo, Hugo H; Geraldo, Kim Mattos KM; Ribeiro, Maria Pia Diniz MPD; Cardoso, Sandra Wagner SW; Grinsztejn, Beatriz B; Veloso, Valdiléa G VG; Capão, Artur A; Siqueira, Marilda Mendonça MM; de Lima Bezerra, Ohanna Cavalcanti OC; Garcia, Cristiana Couto CC; Gomes, Larissa Rodrigues LR; da Silva Cazote, Andressa A; de Almeida, Dalziza Victalina DV; Giacoia-Gripp, Carmem Beatriz Wagner CBW; Côrtes, Fernanda Heloise FH; Morgado, Mariza Gonçalves MG
Publication Date: 2022

Variant appearance in text: rs2276405
PubMed Link: 36105941
Variant Present in the following documents:
  • Main text
  • BMRI2022-9082455.pdf
View BVdb publication page



The association of inflammasome and TLR2 gene polymorphisms with susceptibility to tuberculosis in the Han Taiwanese population.

Scientific Reports
Liu, Chi-Wei CW; Lin, Chou-Jui CJ; Hu, Hui-Chun HC; Liu, Hsiu-Jung HJ; Chiu, Yu-Chi YC; Lee, Shih-Wei SW; Wu, Lawrence Shih-Hsin LS
Publication Date: 2020-06-23

Variant appearance in text: rs2276405
PubMed Link: 32576967
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inflammasomes in Common Immune-Related Skin Diseases.

Frontiers In Immunology
Tang, Lili L; Zhou, Fusheng F
Publication Date: 2020

Variant appearance in text: rs2276405
PubMed Link: 32528469
Variant Present in the following documents:
  • Main text
  • fimmu-11-00882.pdf
View BVdb publication page



Inflammasome genetics and complex diseases: a comprehensive review.

European Journal Of Human Genetics : Ejhg
Fernandes, Fernanda Pereira FP; Leal, Vinicius N C VNC; Souza de Lima, Dhemerson D; Reis, Edione C EC; Pontillo, Alessandra A
Publication Date: 2020-10

Variant appearance in text: rs2276405
PubMed Link: 32499599
Variant Present in the following documents:
  • Main text
View BVdb publication page



NLRP3 inflammasome is attenuated in patients with Mycobacterium avium complex lung disease and correlated with decreased interleukin-1β response and host susceptibility.

Scientific Reports
Wu, Ming-Fang MF; Shu, Chin-Chung CC; Wang, Jann-Yuan JY; Yan, Bo-Shiun BS; Lai, Hsin-Chih HC; Chiang, Bor-Luen BL; Wu, Lawrence Shih-Hsin LS; Yu, Chong-Jen CJ
Publication Date: 2019-08-29

Variant appearance in text: rs2276405
PubMed Link: 31467293
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_47609.pdf
View BVdb publication page



Combining Understanding of Immunological Mechanisms and Genetic Variants Toward Development of Personalized Medicine for Psoriasis Patients.

Frontiers In Genetics
Gunter, Natalie Vivien NV; Yap, Bryan Ju Min BJM; Chua, Caroline Lin Lin CLL; Yap, Wei Hsum WH
Publication Date: 2019

Variant appearance in text: rs2276405
PubMed Link: 31130981
Variant Present in the following documents:
  • Main text
  • fgene-10-00395.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: AIM2: 94G>T; E32*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: rs2276405
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.

Nature Communications
Zuo, Xianbo X; Sun, Liangdan L; Yin, Xianyong X; Gao, Jinping J; Sheng, Yujun Y; Xu, Jinhua J; Zhang, Jianzhong J; He, Chundi C; Qiu, Ying Y; Wen, Guangdong G; Tian, Hongqing H; Zheng, Xiaodong X; Liu, Shengxiu S; Wang, Wenjun W; Li, Weiran W; Cheng, Yuyan Y; Liu, Longdan L; Chang, Yan Y; Wang, Zaixing Z; Li, Zenggang Z; Li, Longnian L; Wu, Jianping J; Fang, Ling L; Shen, Changbing C; Zhou, Fusheng F; Liang, Bo B; Chen, Gang G; Li, Hui H; Cui, Yong Y; Xu, Aie A; Yang, Xueqin X; Hao, Fei F; Xu, Limin L; Fan, Xing X; Li, Yuzhen Y; Wu, Rina R; Wang, Xiuli X; Liu, Xiaoming X; Zheng, Min M; Song, Shunpeng S; Ji, Bihua B; Fang, Hong H; Yu, Jianbin J; Sun, Yongxin Y; Hui, Yan Y; Zhang, Furen F; Yang, Rongya R; Yang, Sen S; Zhang, Xuejun X
Publication Date: 2015-04-09

Variant appearance in text: rs2276405
PubMed Link: 25854761
Variant Present in the following documents:
  • Main text
  • ncomms7793.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: AIM2: E32*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page