NLRP3 c.2107C>A ;(p.Q703K)

Variant ID: 1-247588858-C-A

NM_001243133.1(NLRP3):c.2107C>A;(p.Q703K)

This variant was identified in 164 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: NLRP3: 2107C>A; Gln703Lys
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Role of NLRP3 in the pathogenesis and treatment of gout arthritis.

Frontiers In Immunology
Liu, Ya-Ru YR; Wang, Jie-Quan JQ; Li, Jun J
Publication Date: 2023

Variant appearance in text: rs35829419
PubMed Link: 37051231
Variant Present in the following documents:
  • Main text
  • fimmu-14-1137822.pdf
View BVdb publication page



Involvement of inflammasomes in tumor microenvironment and tumor therapies.

Journal Of Hematology & Oncology
Zhang, Ziqi Z; Li, Xue X; Wang, Yang Y; Wei, Yuquan Y; Wei, Xiawei X
Publication Date: 2023-03-17

Variant appearance in text: rs35829419
PubMed Link: 36932407
Variant Present in the following documents:
  • Main text
  • 13045_2023_Article_1407.pdf
View BVdb publication page



The Role of NLRP3, a Star of Excellence in Myeloproliferative Neoplasms.

International Journal Of Molecular Sciences
Parciante, Elisa E; Cumbo, Cosimo C; Anelli, Luisa L; Zagaria, Antonella A; Redavid, Immacolata I; Minervini, Angela A; Conserva, Maria Rosa MR; Tota, Giuseppina G; Coccaro, Nicoletta N; Tarantini, Francesco F; Minervini, Crescenzio Francesco CF; Macchia, Maria Giovanna MG; Specchia, Giorgina G; Musto, Pellegrino P; Albano, Francesco F
Publication Date: 2023-03-02

Variant appearance in text: rs35829419
PubMed Link: 36902299
Variant Present in the following documents:
  • Main text
  • ijms-24-04860.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: rs35829419
PubMed Link: 36870425
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The mechanism and therapy of aortic aneurysms.

Signal Transduction And Targeted Therapy
Gao, Jianing J; Cao, Huanhuan H; Hu, Gaofei G; Wu, Yufei Y; Xu, Yangkai Y; Cui, Hongtu H; Lu, Hong S HS; Zheng, Lemin L
Publication Date: 2023-02-03

Variant appearance in text: rs35829419
PubMed Link: 36737432
Variant Present in the following documents:
  • Main text
  • 41392_2023_Article_1325.pdf
View BVdb publication page



Autoinflammation in Syndromic Hidradenitis Suppurativa: The Role of AIM2.

Vaccines
Moltrasio, Chiara C; Cagliani, Rachele R; Sironi, Manuela M; Clerici, Mario M; Pontremoli, Chiara C; Maronese, Carlo Alberto CA; Tricarico, Paola Maura PM; Crovella, Sergio S; Marzano, Angelo Valerio AV
Publication Date: 2023-01-11

Variant appearance in text: NLRP3: 2107C>A
PubMed Link: 36680007
Variant Present in the following documents:
  • Main text
  • vaccines-11-00162.pdf
View BVdb publication page



Can Polymorphisms in NLRP3 Inflammasome Complex Be Associated with Postmenopausal Osteoporosis Severity?

Genes
Guaraná, Werbson Lima WL; Lima, Camilla Albertina Dantas CAD; Barbosa, Alexandre Domingues AD; Crovella, Sergio S; Sandrin-Garcia, Paula P
Publication Date: 2022-12-02

Variant appearance in text: rs35829419
PubMed Link: 36553538
Variant Present in the following documents:
  • Main text
  • genes-13-02271.pdf
View BVdb publication page



Systemic Autoinflammatory Disease and Genetic Testing.

Rheumatology And Immunology Research
Yao, Qingping Q
Publication Date: 2021-12

Variant appearance in text: NLRP3: Q703K
PubMed Link: 36467988
Variant Present in the following documents:
  • Main text
  • rir-02-209.pdf
View BVdb publication page



Resistance and Susceptibility Immune Factors at Play during Mycobacterium tuberculosis Infection of Macrophages.

Pathogens (Basel, Switzerland)
Simper, Jan D JD; Perez, Esteban E; Schlesinger, Larry S LS; Azad, Abul K AK
Publication Date: 2022-10-06

Variant appearance in text: rs35829419
PubMed Link: 36297211
Variant Present in the following documents:
  • pathogens-11-01153.pdf
View BVdb publication page



NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies.

Frontiers In Immunology
Moltrasio, Chiara C; Romagnuolo, Maurizio M; Marzano, Angelo Valerio AV
Publication Date: 2022

Variant appearance in text: NLRP3: Q703K
PubMed Link: 36275641
Variant Present in the following documents:
  • fimmu-13-1007705.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: rs35829419
PubMed Link: 36105941
Variant Present in the following documents:
  • Main text
  • BMRI2022-9082455.pdf
View BVdb publication page



Ablation of NLRP3 inflammasome rewires MDSC function and promotes tumor regression.

Frontiers In Immunology
Papafragkos, Iosif I; Grigoriou, Maria M; Boon, Louis L; Kloetgen, Andreas A; Hatzioannou, Aikaterini A; Verginis, Panayotis P
Publication Date: 2022

Variant appearance in text: rs35829419
PubMed Link: 36032139
Variant Present in the following documents:
  • Main text
  • fimmu-13-889075.pdf
View BVdb publication page



Supramolecular organizing centers at the interface of inflammation and neurodegeneration.

Frontiers In Immunology
Sušjan-Leite, Petra P; Ramuta, Taja Železnik TŽ; Boršić, Elvira E; Orehek, Sara S; Hafner-Bratkovič, Iva I
Publication Date: 2022

Variant appearance in text: rs35829419
PubMed Link: 35979366
Variant Present in the following documents:
  • Main text
  • fimmu-13-940969.pdf
View BVdb publication page



A susceptibility putative haplotype within NLRP3 inflammasome gene influences ischaemic stroke risk in the population of Punjab, India.

International Journal Of Immunogenetics
Kumar, Nitin N; Kaur, Manminder M; Singh, Gurjinderpal G; Valecha, Srishti S; Khinda, Rubanpal R; Di Napoli, Mario M; Singh, Monica M; Singh, Puneetpal P; Mastana, Sarabjit S
Publication Date: 2022-08

Variant appearance in text: rs35829419
PubMed Link: 35862251
Variant Present in the following documents:
  • Main text
  • IJI-49-260.pdf
View BVdb publication page



Role of NLRP3 Inflammasome in Rheumatoid Arthritis.

Frontiers In Immunology
Yin, Hui H; Liu, Na N; Sigdel, Keshav Raj KR; Duan, Lihua L
Publication Date: 2022

Variant appearance in text: rs35829419
PubMed Link: 35833125
Variant Present in the following documents:
  • Main text
  • fimmu-13-931690.pdf
View BVdb publication page



NLRP3, NLRC4 and NLRC5 Gene Polymorphisms Associate with Susceptibility of Pulmonary Aspergillosis in Non-Neutropenic Patients.

Journal Of Clinical Medicine
Zhong, Jinjin J; Liu, Lulu L; Lu, Yajie Y; Gu, Yu Y; Zhao, Jiangnan J; Chen, Bilin B; Zhou, Wei W; Su, Xin X
Publication Date: 2022-03-28

Variant appearance in text: rs35829419
PubMed Link: 35407478
Variant Present in the following documents:
  • Main text
  • jcm-11-01870.pdf
View BVdb publication page



The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.

Frontiers In Genetics
Pace, Nikolai Paul NP; Mintoff, Dillon D; Borg, Isabella I
Publication Date: 2022

Variant appearance in text: NLRP3: 2107C>A; Gln703Lys
PubMed Link: 35401657
Variant Present in the following documents:
  • Main text
  • fgene-13-861241.pdf
View BVdb publication page



Inflammasome and Its Therapeutic Targeting in Rheumatoid Arthritis.

Frontiers In Immunology
Jiang, Qi Q; Wang, Xin X; Huang, Enyu E; Wang, Qiao Q; Wen, Chengping C; Yang, Guocan G; Lu, Liwei L; Cui, Dawei D
Publication Date: 2021

Variant appearance in text: rs35829419
PubMed Link: 35095918
Variant Present in the following documents:
  • Main text
  • fimmu-12-816839.pdf
View BVdb publication page



Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology
Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S
Publication Date: 2021-12-14

Variant appearance in text: NLRP3: Q703K; rs35829419
PubMed Link: 34905135
Variant Present in the following documents:
  • 43141_2021_268_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology
Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S
Publication Date: 2021-12-14

Variant appearance in text: NLRP3: Q703K; rs35829419
PubMed Link: 34905135
Variant Present in the following documents:
  • 43141_2021_268_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The Role of NLRP3 Inflammasome in Lupus Nephritis.

International Journal Of Molecular Sciences
Oliveira, Camila Barbosa CB; Lima, Camilla Albertina Dantas CAD; Vajgel, Gisele G; Sandrin-Garcia, Paula P
Publication Date: 2021-11-19

Variant appearance in text: rs35829419
PubMed Link: 34830358
Variant Present in the following documents:
  • Main text
  • ijms-22-12476.pdf
View BVdb publication page



The Impact of NLRP3 Activation on Hematopoietic Stem Cell Transplantation.

International Journal Of Molecular Sciences
Espinoza, J Luis JL; Kamio, Kosuke K; Lam, Vu Quang VQ; Takami, Akiyoshi A
Publication Date: 2021-10-31

Variant appearance in text: rs35829419
PubMed Link: 34769275
Variant Present in the following documents:
  • Main text
  • ijms-22-11845.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: rs35829419
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: rs35829419
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



The NLRP3 Inflammasome: Relevance in Solid Organ Transplantation.

International Journal Of Molecular Sciences
Burke, Ryan M RM; Dale, Bethany L BL; Dholakia, Shamik S
Publication Date: 2021-10-03

Variant appearance in text: rs35829419
PubMed Link: 34639062
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations between inflammasome-related gene NLRP3 Polymorphisms (rs10754558 and rs35829419) and risk of bladder cancer in a Chinese population.

Journal Of Clinical Laboratory Analysis
Xu, Gang G; Huang, Ruohui R; Xia, Wei W; Jiang, Bo B; Xiao, Guancheng G; Li, Yanmin Y
Publication Date: 2021-11

Variant appearance in text: rs35829419
PubMed Link: 34636069
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations of NLRP3 and CARD8 gene polymorphisms with alcohol dependence and commonly related psychiatric disorders: a preliminary study.

Arhiv Za Higijenu Rada I Toksikologiju
Ilješ, Anja Plemenitaš AP; Plesničar, Blanka Kores BK; Dolžan, Vita V
Publication Date: 2021-09-28

Variant appearance in text: rs35829419
PubMed Link: 34587665
Variant Present in the following documents:
  • Main text
  • aiht-72-191.pdf
View BVdb publication page



Genetic Polymorphisms, Gene-Gene Interactions and Neurologic Sequelae at Two Years Follow-Up in Newborns with Hypoxic-Ischemic Encephalopathy Treated with Hypothermia.

Antioxidants (Basel, Switzerland)
Esih, Katarina K; Goričar, Katja K; Soltirovska-Šalamon, Aneta A; Dolžan, Vita V; Rener-Primec, Zvonka Z
Publication Date: 2021-09-20

Variant appearance in text: rs35829419
PubMed Link: 34573127
Variant Present in the following documents:
  • Main text
View BVdb publication page



Colchicine - an effective treatment for children with a clinical diagnosis of autoinflammatory diseases without pathogenic gene variants.

Pediatric Rheumatology Online Journal
Welzel, Tatjana T; Wildermuth, Anna L AL; Deschner, Norbert N; Benseler, Susanne M SM; Kuemmerle-Deschner, Jasmin B JB
Publication Date: 2021-09-14

Variant appearance in text: NLRP3: Q703K
PubMed Link: 34521435
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Expression of Allele Changes in NLRP3 (rs35829419) and IL-1β (+3954) Gene Polymorphisms in Periodontitis and Coronary Artery Disease.

Materials (Basel, Switzerland)
Mahendra, Jaideep J; Rao, Abirami Nayaki AN; Mahendra, Little L; Sayed, Mohammed E ME; Mugri, Maryam H MH; Balaji, Thodur Madapusi TM; Varadarajan, Saranya S; Jagannathan, Raghunathan R; Srinivasan, Sruthi S; Baeshen, Hosam Ali HA; Mathew, Reji R; Patil, Shankargouda S
Publication Date: 2021-09-06

Variant appearance in text: rs35829419
PubMed Link: 34501201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Polymorphisms of FCRL3, NLRP3 and IL2 are Associated with the Risk of Head and Neck Cancer in a Chinese Population.

Pharmacogenomics And Personalized Medicine
Zhang, Yuhao Y; Sun, Dawei D
Publication Date: 2021

Variant appearance in text: rs35829419
PubMed Link: 34471376
Variant Present in the following documents:
  • Main text
  • pgpm-14-1047.pdf
View BVdb publication page



CLIC1 Expression in Skin Biopsies from Patients With Rheumatoid and Psoriatic Arthritis as a Potential Tool to Predict Therapy Response.

In Vivo (Athens, Greece)
Bordean, Liliana L; Chis, Monica M; Raica, Marius M; Cotoi, Ovidiu Simion OS; Ceausu, Amalia Raluca AR; Avram, Claudiu C; Cimpean, Anca Maria AM
Publication Date: 2021

Variant appearance in text: rs35829419
PubMed Link: 34410943
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of NLRP3 rs35829419 and rs10754558 Polymorphisms With Risks of Autoimmune Diseases: A Systematic Review and Meta-Analysis.

Frontiers In Genetics
Wu, Zubo Z; Wu, Suyuan S; Liang, Tao T
Publication Date: 2021

Variant appearance in text: NLRP3: Q703K; rs35829419
PubMed Link: 34367252
Variant Present in the following documents:
  • Main text
  • fgene-12-690860.pdf
View BVdb publication page



Genetic Polymorphisms of NLRP3 (rs4612666) and CARD8 (rs2043211) in Periodontitis and Cardiovascular Diseases.

Biology
Mahendra, Jaideep J; Rao, Abirami Nayaki AN; Mahendra, Little L; Fageeh, Hytham N HN; Fageeh, Hammam Ibrahim HI; Balaji, Thodur Madapusi TM; Varadarajan, Saranya S; Jagannathan, Raghunathan R; Mehta, Deepak D; Suresh, Venkata V VV; Raj, A Thirumal AT; Patil, Shankargouda S
Publication Date: 2021-06-27

Variant appearance in text: rs35829419
PubMed Link: 34199122
Variant Present in the following documents:
  • Main text
  • biology-10-00592.pdf
View BVdb publication page



Inflammasomes and Type 1 Diabetes.

Frontiers In Immunology
Pearson, James Alexander JA; Wong, F Susan FS; Wen, Li L
Publication Date: 2021

Variant appearance in text: rs35829419
PubMed Link: 34177937
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.

Frontiers In Immunology
Guzel, Ferhat F; Romano, Micol M; Keles, Erdi E; Piskin, David D; Ozen, Seza S; Poyrazoglu, Hakan H; Kasapcopur, Ozgur O; Demirkaya, Erkan E
Publication Date: 2021

Variant appearance in text: NLRP3: Q703K; rs35829419
PubMed Link: 34177904
Variant Present in the following documents:
  • Main text
View BVdb publication page



A gain-of-function NLRP3 3'-UTR polymorphism causes miR-146a-mediated suppression of NLRP3 expression and confers protection against sepsis progression.

Scientific Reports
Lu, Furong F; Chen, Hongpeng H; Hong, Yuan Y; Lin, Yao Y; Liu, Lizhen L; Wei, Ning N; Wu, Qinyan Q; Liao, Shuanglin S; Yang, Shuai S; He, Junbing J; Shao, Yiming Y
Publication Date: 2021-06-25

Variant appearance in text: rs35829419
PubMed Link: 34172780
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_92547.pdf
View BVdb publication page



The Role of NLRP1, NLRP3, and AIM2 Inflammasomes in Psoriasis: Review.

International Journal Of Molecular Sciences
Ciążyńska, Magdalena M; Olejniczak-Staruch, Irmina I; Sobolewska-Sztychny, Dorota D; Narbutt, Joanna J; Skibińska, Małgorzata M; Lesiak, Aleksandra A
Publication Date: 2021-05-31

Variant appearance in text: rs35829419
PubMed Link: 34072753
Variant Present in the following documents:
  • Main text
View BVdb publication page