NLRP3 c.1705G>C ;(p.G569R)

Variant ID: 1-247588456-G-C

NM_001243133.1(NLRP3):c.1705G>C;(p.G569R)

This variant was identified in 21 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: 1705G>C; Gly569Arg
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: NLRP3: 1705G>C; Gly569Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: G569R
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: G569R
PubMed Link: 34905135
Variant Present in the following documents:
  • 43141_2021_268_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.

Frontiers In Immunology
Samson, Jenny Mae JM; Ravindran Menon, Dinoop D; Vaddi, Prasanna K PK; Kalani Williams, Nazanin N; Domenico, Joanne J; Zhai, Zili Z; Backos, Donald S DS; Fujita, Mayumi M
Publication Date: 2020

Variant appearance in text: MWS: 1705G>C
PubMed Link: 33329557
Variant Present in the following documents:
  • Main text
  • fimmu-11-584364.pdf
View BVdb publication page



Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation
Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L
Publication Date: 2019

Variant appearance in text: MWS: 1705G>C; rs121908151
PubMed Link: 32082075
Variant Present in the following documents:
  • Main text
  • MI2019-3293145.pdf
View BVdb publication page



Lessons From the Misdiagnosis of Cryopyrin-Associated Periodic Syndrome as an Infection: Importance of an Early and Precise Diagnosis.

Journal Of Clinical Rheumatology : Practical Reports On Rheumatic & Musculoskeletal Diseases
Li, Tao T; Wu, Jing J; Ruan, Qiaoling Q; Zhang, Wenhong W; Zhang, Wenhong W; Liu, Ping P; Pei, Ning N; Xi, Xiuhong X; Lu, Shuihua S; Jiang, Ning N
Publication Date: 2021-12-01

Variant appearance in text: NLRP3: G569R
PubMed Link: 31524846
Variant Present in the following documents:
  • Main text
  • rhu-27-s485.pdf
View BVdb publication page



Lessons From the Misdiagnosis of Cryopyrin-Associated Periodic Syndrome as an Infection: Importance of an Early and Precise Diagnosis.

Journal Of Clinical Rheumatology : Practical Reports On Rheumatic & Musculoskeletal Diseases
Li, Tao T; Wu, Jing J; Ruan, Qiaoling Q; Zhang, Wenhong W; Zhang, Wenhong W; Liu, Ping P; Pei, Ning N; Xi, Xiuhong X; Lu, Shuihua S; Jiang, Ning N
Publication Date: 2019-09-12

Variant appearance in text: NLRP3: G569R
PubMed Link: 31524846
Variant Present in the following documents:
  • Main text
  • rhu-27-s485.pdf
View BVdb publication page



A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Orphanet Journal Of Rare Diseases
Papa, Riccardo R; Doglio, Matteo M; Lachmann, Helen J HJ; Ozen, Seza S; Frenkel, Joost J; Simon, Anna A; Neven, Bénédicte B; Kuemmerle-Deschner, Jasmin J; Ozgodan, Huri H; Caorsi, Roberta R; Federici, Silvia S; Finetti, Martina M; Trachana, Maria M; Brunner, Jurgen J; Bezrodnik, Liliana L; Pinedo Gago, Mari Carmen MC; Maggio, Maria Cristina MC; Tsitsami, Elena E; Al Suwairi, Wafaa W; Espada, Graciela G; Shcherbina, Anna A; Aksu, Guzide G; Ruperto, Nicolino N; Martini, Alberto A; Ceccherini, Isabella I; Gattorno, Marco M; ,
Publication Date: 2017-10-18

Variant appearance in text: NALP3: G569R
PubMed Link: 29047407
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_720.pdf
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: NLRP3: Gly569Arg
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
  • fimmu-08-00344.pdf
View BVdb publication page



What do we know about the inflammasome in humans?

Brain Pathology (Zurich, Switzerland)
Amin, Jay J; Boche, Delphine D; Rakic, Sonja S
Publication Date: 2017-03

Variant appearance in text: MWS: Gly569Arg
PubMed Link: 27997042
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Interleukin-1β-Producing Monocytes That Are Susceptible to Pyronecrotic Cell Death in Patients With Neonatal-Onset Multisystem Inflammatory Disease.

Arthritis & Rheumatology (Hoboken, N.J.)
Edwan, Jehad H JH; Goldbach-Mansky, Raphaela R; Colbert, Robert A RA
Publication Date: 2015-12

Variant appearance in text: NLRP3: G569R
PubMed Link: 26245468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeting the NLRP3 inflammasome in chronic inflammatory diseases: current perspectives.

Journal Of Inflammation Research
Ozaki, Ema E; Campbell, Matthew M; Doyle, Sarah L SL
Publication Date: 2015

Variant appearance in text: FCAS: GLY569ARG; rs121908151
PubMed Link: 25653548
Variant Present in the following documents:
  • Main text
  • jir-8-015.pdf
View BVdb publication page



An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.

Nature Genetics
Canna, Scott W SW; de Jesus, Adriana A AA; Gouni, Sushanth S; Brooks, Stephen R SR; Marrero, Bernadette B; Liu, Yin Y; DiMattia, Michael A MA; Zaal, Kristien J M KJ; Sanchez, Gina A Montealegre GA; Kim, Hanna H; Chapelle, Dawn D; Plass, Nicole N; Huang, Yan Y; Villarino, Alejandro V AV; Biancotto, Angelique A; Fleisher, Thomas A TA; Duncan, Joseph A JA; O'Shea, John J JJ; Benseler, Susanne S; Grom, Alexei A; Deng, Zuoming Z; Laxer, Ronald M RM; Goldbach-Mansky, Raphaela R
Publication Date: 2014-10

Variant appearance in text: NLRP3: G569R
PubMed Link: 25217959
Variant Present in the following documents:
  • Main text
  • nihms620985.pdf
View BVdb publication page



Impaired cytokine responses in patients with cryopyrin-associated periodic syndrome (CAPS).

Clinical And Experimental Immunology
Haverkamp, M H MH; van de Vosse, E E; Goldbach-Mansky, R R; Holland, S M SM
Publication Date: 2014-09

Variant appearance in text: MWS: G569R
PubMed Link: 24773462
Variant Present in the following documents:
  • Main text
View BVdb publication page



Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS).

Arthritis Research & Therapy
Kuemmerle-Deschner, Jasmin B JB; Ramos, Eduardo E; Blank, Norbert N; Roesler, Joachim J; Felix, Sandra D SD; Jung, Thomas T; Stricker, Kirstin K; Chakraborty, Abhijit A; Tannenbaum, Stacey S; Wright, Andrew M AM; Rordorf, Christiane C
Publication Date: 2011-02-28

Variant appearance in text: MWS: G569R
PubMed Link: 21356079
Variant Present in the following documents:
  • Main text
  • ar3266.pdf
View BVdb publication page



The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.

Cellular & Molecular Immunology
Conforti-Andreoni, Cristina C; Ricciardi-Castagnoli, Paola P; Mortellaro, Alessandra A
Publication Date: 2011-03

Variant appearance in text: NLRP3: G569R
PubMed Link: 21258359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases.

Journal Of Immunology (Baltimore, Md. : 1950)
Jha, Sushmita S; Ting, Jenny P-Y JP
Publication Date: 2009-12-15

Variant appearance in text: MWS: G569R
PubMed Link: 20007570
Variant Present in the following documents:
  • Main text
View BVdb publication page



NLR proteins: integral members of innate immunity and mediators of inflammatory diseases.

Journal Of Leukocyte Biology
Wilmanski, Jeanette M JM; Petnicki-Ocwieja, Tanja T; Kobayashi, Koichi S KS
Publication Date: 2008-01

Variant appearance in text: NALP3: G569R
PubMed Link: 17875812
Variant Present in the following documents:
  • Main text
View BVdb publication page



The anesthetic management of children with neonatal-onset multi-system inflammatory disease.

Anesthesia And Analgesia
Lauro, Christine F CF; Goldbach-Mansky, Raphaela R; Schmidt, Margaret M; Quezado, Zenaide M N ZM
Publication Date: 2007-08

Variant appearance in text: CIAS1: G569R
PubMed Link: 17646489
Variant Present in the following documents:
  • Main text
View BVdb publication page



The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.

Arthritis And Rheumatism
Aksentijevich, Ivona I; Putnam, Christopher D CD; Remmers, Elaine F EF; Mueller, James L JL; Le, Julie J; Kolodner, Richard D RD; Moak, Zachary Z; Chuang, Michael M; Austin, Frances F; Goldbach-Mansky, Raphaela R; Hoffman, Hal M HM; Kastner, Daniel L DL
Publication Date: 2007-04

Variant appearance in text: CIAS1: G569R
PubMed Link: 17393462
Variant Present in the following documents:
  • Main text
View BVdb publication page



De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.

Arthritis And Rheumatism
Aksentijevich, Ivona I; Nowak, Miroslawa M; Mallah, Mustapha M; Chae, Jae Jin JJ; Watford, Wendy T WT; Hofmann, Sigrun R SR; Stein, Leonard L; Russo, Ricardo R; Goldsmith, Donald D; Dent, Peter P; Rosenberg, Helene F HF; Austin, Frances F; Remmers, Elaine F EF; Balow, James E JE; Rosenzweig, Sergio S; Komarow, Hirsh H; Shoham, Nitza G NG; Wood, Geryl G; Jones, Janet J; Mangra, Nadira N; Carrero, Hector H; Adams, Barbara S BS; Moore, Terry L TL; Schikler, Kenneth K; Hoffman, Hal H; Lovell, Daniel J DJ; Lipnick, Robert R; Barron, Karyl K; O'Shea, John J JJ; Kastner, Daniel L DL; Goldbach-Mansky, Raphaela R
Publication Date: 2002-12

Variant appearance in text: CIAS1: G569R
PubMed Link: 12483741
Variant Present in the following documents:
  • Main text
View BVdb publication page



New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

American Journal Of Human Genetics
Dodé, Catherine C; Le Dû, Nathalie N; Cuisset, Laurence L; Letourneur, Frank F; Berthelot, Jean-Marie JM; Vaudour, Gérard G; Meyrier, Alain A; Watts, Richard A RA; Scott, David G I DG; Nicholls, Anne A; Granel, Brigitte B; Frances, Camille C; Garcier, François F; Edery, Patrick P; Boulinguez, Serge S; Domergues, Jean-Paul JP; Delpech, Marc M; Grateau, Gilles G
Publication Date: 2002-06

Variant appearance in text: MWS: G569R
PubMed Link: 11992256
Variant Present in the following documents:
  • Main text
View BVdb publication page