ADAR c.3337G>C ;(p.D1113H)

Variant ID: 1-154557799-C-G

NM_001111.4(ADAR):c.3337G>C;(p.D1113H)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


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: ADAR: 3337G>C; Asp1113His
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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Innate immune activation without immune cell infiltration in brains of murine models of Aicardi-Goutières Syndrome.

Brain Pathology (Zurich, Switzerland)
Wiley, Clayton A CA; Steinman, Richard A RA; Wang, Qingde Q
Publication Date: 2022-09-25

Variant appearance in text: ADAR1: D1113H
PubMed Link: 36161399
Variant Present in the following documents:
  • Main text
  • BPA-33-e13118.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ADAR: 3337G>C; Asp1113His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Neuropediatrics
Rice, Gillian I GI; Kitabayashi, Naoki N; Barth, Magalie M; Briggs, Tracy A TA; Burton, Annabel C E ACE; Carpanelli, Maria Luisa ML; Cerisola, Alfredo M AM; Colson, Cindy C; Dale, Russell C RC; Danti, Federica Rachele FR; Darin, Niklas N; De Azua, Begoña B; De Giorgis, Valentina V; De Goede, Christian G L CGL; Desguerre, Isabelle I; De Laet, Corinne C; Eslahi, Atieh A; Fahey, Michael C MC; Fallon, Penny P; Fay, Alex A; Fazzi, Elisa E; Gorman, Mark P MP; Gowrinathan, Nirmala Rani NR; Hully, Marie M; Kurian, Manju A MA; Leboucq, Nicolas N; Lin, Jean-Pierre S-M JS; Lines, Matthew A MA; Mar, Soe S SS; Maroofian, Reza R; Martí-Sanchez, Laura L; McCullagh, Gary G; Mojarrad, Majid M; Narayanan, Vinodh V; Orcesi, Simona S; Ortigoza-Escobar, Juan Dario JD; Pérez-Dueñas, Belén B; Petit, Florence F; Ramsey, Keri M KM; Rasmussen, Magnhild M; Rivier, François F; Rodríguez-Pombo, Pilar P; Roubertie, Agathe A; Stödberg, Tommy I TI; Toosi, Mehran Beiraghi MB; Toutain, Annick A; Uettwiller, Florence F; Ulrick, Nicole N; Vanderver, Adeline A; Waldman, Amy A; Livingston, John H JH; Crow, Yanick J YJ
Publication Date: 2017-06

Variant appearance in text: ADAR1: 3337G>C
PubMed Link: 28561207
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of Aicardi-Goutières syndrome mutations predicted from ADAR-RNA structures.

Rna Biology
Fisher, Andrew J AJ; Beal, Peter A PA
Publication Date: 2017-02

Variant appearance in text: ADAR: D1113H
PubMed Link: 27937139
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Plos One
Fujikura, Kohei K
Publication Date: 2016

Variant appearance in text: ADAR: Asp1113His
PubMed Link: 27219052
Variant Present in the following documents:
  • pone.0155552.s003.pdf
View BVdb publication page



ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells.

Plos One
Cuadrado, Eloy E; Booiman, Thijs T; van Hamme, John L JL; Jansen, Machiel H MH; van Dort, Karel A KA; Vanderver, Adeline A; Rice, Gillian I GI; Crow, Yanick J YJ; Kootstra, Neeltje A NA; Kuijpers, Taco W TW
Publication Date: 2015

Variant appearance in text: ADAR1: 3337G>C
PubMed Link: 26629815
Variant Present in the following documents:
  • Main text
  • pone.0143613.pdf
View BVdb publication page



Diverse selective regimes shape genetic diversity at ADAR genes and at their coding targets.

Rna Biology
Forni, Diego D; Mozzi, Alessandra A; Pontremoli, Chiara C; Vertemara, Jacopo J; Pozzoli, Uberto U; Biasin, Mara M; Bresolin, Nereo N; Clerici, Mario M; Cagliani, Rachele R; Sironi, Manuela M
Publication Date: 2015

Variant appearance in text: ADAR: D1113H
PubMed Link: 25826567
Variant Present in the following documents:
  • Main text
View BVdb publication page



The RNA-editing enzyme ADAR1 controls innate immune responses to RNA.

Cell Reports
Mannion, Niamh M NM; Greenwood, Sam M SM; Young, Robert R; Cox, Sarah S; Brindle, James J; Read, David D; Nellåker, Christoffer C; Vesely, Cornelia C; Ponting, Chris P CP; McLaughlin, Paul J PJ; Jantsch, Michael F MF; Dorin, Julia J; Adams, Ian R IR; Scadden, A D J AD; Ohman, Marie M; Keegan, Liam P LP; O'Connell, Mary A MA
Publication Date: 2014-11-20

Variant appearance in text: ADAR: D1113H
PubMed Link: 25456137
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
View BVdb publication page



Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

Nature Genetics
Rice, Gillian I GI; Kasher, Paul R PR; Forte, Gabriella M A GM; Mannion, Niamh M NM; Greenwood, Sam M SM; Szynkiewicz, Marcin M; Dickerson, Jonathan E JE; Bhaskar, Sanjeev S SS; Zampini, Massimiliano M; Briggs, Tracy A TA; Jenkinson, Emma M EM; Bacino, Carlos A CA; Battini, Roberta R; Bertini, Enrico E; Brogan, Paul A PA; Brueton, Louise A LA; Carpanelli, Marialuisa M; De Laet, Corinne C; de Lonlay, Pascale P; del Toro, Mireia M; Desguerre, Isabelle I; Fazzi, Elisa E; Garcia-Cazorla, Angels A; Heiberg, Arvid A; Kawaguchi, Masakazu M; Kumar, Ram R; Lin, Jean-Pierre S-M JP; Lourenco, Charles M CM; Male, Alison M AM; Marques, Wilson W; Mignot, Cyril C; Olivieri, Ivana I; Orcesi, Simona S; Prabhakar, Prab P; Rasmussen, Magnhild M; Robinson, Robert A RA; Rozenberg, Flore F; Schmidt, Johanna L JL; Steindl, Katharina K; Tan, Tiong Y TY; van der Merwe, William G WG; Vanderver, Adeline A; Vassallo, Grace G; Wakeling, Emma L EL; Wassmer, Evangeline E; Whittaker, Elizabeth E; Livingston, John H JH; Lebon, Pierre P; Suzuki, Tamio T; McLaughlin, Paul J PJ; Keegan, Liam P LP; O'Connell, Mary A MA; Lovell, Simon C SC; Crow, Yanick J YJ
Publication Date: 2012-11

Variant appearance in text: ADAR1: 3337G>C
PubMed Link: 23001123
Variant Present in the following documents:
  • Main text
View BVdb publication page