AIM2 c.94G>A ;(p.E32K)

Variant ID: 1-159043196-C-T

NM_004833.1(AIM2):c.94G>A;(p.E32K)

This variant was identified in 21 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



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: AIM2: E32K
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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



Roles of AIM2 Gene and AIM2 Inflammasome in the Pathogenesis and Treatment of Psoriasis.

Frontiers In Genetics
Wang, Jieyi J; Gao, Jing J; Huang, Cong C; Jeong, Sohyun S; Ko, Randy R; Shen, Xue X; Chen, Chaofeng C; Zhong, Weilong W; Zou, Yanfen Y; Yu, Bo B; Shen, Changbing C
Publication Date: 2022

Variant appearance in text: AIM2: Glu32Lys; rs2276405
PubMed Link: 36118867
Variant Present in the following documents:
  • Main text
  • fgene-13-929162.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



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: AIM2: 94G>A; Glu32Lys
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
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



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: AIM2: E32K; rs2276405
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
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



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



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: AIM2: E32K
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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



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: AIM2: E32K; rs2276405
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: AIM2: E32K; rs2276405
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page