GRIN1 c.2530C>T ;(p.R844C)

Variant ID: 9-140058297-C-T

NM_007327.3(GRIN1):c.2530C>T;(p.R844C)

This variant was identified in 9 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: GRIN1: 2530C>T; Arg844Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Jama Neurology
McKnight, Dianalee D; Morales, Ana A; Hatchell, Kathryn E KE; Bristow, Sara L SL; Bonkowsky, Joshua L JL; Perry, Michael Scott MS; Berg, Anne T AT; Borlot, Felippe F; Esplin, Edward D ED; Moretz, Chad C; Angione, Katie K; Ríos-Pohl, Loreto L; Nussbaum, Robert L RL; Aradhya, Swaroop S; , ; Haldeman-Englert, Chad R CR; Levy, Rebecca J RJ; Parachuri, Venu G VG; Lay-Son, Guillermo G; de Montellano, David J Dávila-Ortiz DJD; Ramirez-Garcia, Miguel Angel MA; Benítez Alonso, Edmar O EO; Ziobro, Julie J; Chirita-Emandi, Adela A; Felix, Temis M TM; Kulasa-Luke, Dianne D; Megarbane, Andre A; Karkare, Shefali S; Chagnon, Sarah L SL; Humberson, Jennifer B JB; Assaf, Melissa J MJ; Silva, Sebastian S; Zarroli, Katherine K; Boyarchuk, Oksana O; Nelson, Gary R GR; Palmquist, Rachel R; Hammond, Katherine C KC; Hwang, Sean T ST; Boutlier, Susan B SB; Nolan, Melinda M; Batley, Kaitlin Y KY; Chavda, Devraj D; Reyes-Silva, Carlos Alberto CA; Miroshnikov, Oleksandr O; Zuccarelli, Britton B; Amlie-Wolf, Louise L; Wheless, James W JW; Seinfeld, Syndi S; Kanhangad, Manoj M; Freeman, Jeremy L JL; Monroy-Santoyo, Susana S; Rodriguez-Vazquez, Natalia N; Ryan, Monique M MM; Machie, Michelle M; Guerra, Patricio P; Hassan, Muhammad Jawad MJ; Candee, Meghan S MS; Bupp, Caleb P CP; Park, Kristen L KL; Muller, Eric E; Lupo, Pamela P; Pedersen, Robert C RC; Arain, Amir M AM; Murphy, Andrea A; Schatz, Krista K; Mu, Weiyi W; Kalika, Paige M PM; Plaza, Lautaro L; Kellogg, Marissa A MA; Lora, Evelyn G EG; Carson, Robert P RP; Svystilnyk, Victoria V; Venegas, Viviana V; Luke, Rebecca R RR; Jiang, Huiyuan H; Stetsenko, Tetiana T; Dueñas-Roque, Milagros M MM; Trasmonte, Joseph J; Burke, Rebecca J RJ; Hurst, Anna C E ACE; Smith, Douglas M DM; Massingham, Lauren J LJ; Pisani, Laura L; Costin, Carrie E CE; Ostrander, Betsy B; Filloux, Francis M FM; Ananth, Amitha L AL; Mohamed, Ismail S IS; Nechai, Alla A; Dao, Jasmin M JM; Fahey, Michael C MC; Aliu, Ermal E; Falchek, Stephen S; Press, Craig A CA; Treat, Lauren L; Eschbach, Krista K; Starks, Angela A; Kammeyer, Ryan R; Bear, Joshua J JJ; Jacobson, Mona M; Chernuha, Veronika V; Meibos, Bailey B; Wong, Kristen K; Sweney, Matthew T MT; Espinoza, A Chris AC; Van Orman, Colin B CB; Weinstock, Arie A; Kumar, Ashutosh A; Soler-Alfonso, Claudia C; Nolan, Danielle A DA; Raza, Muhammad M; Rojas Carrion, Miguel David MD; Chari, Geetha G; Marsh, Eric D ED; Shiloh-Malawsky, Yael Y; Parikh, Sumit S; Gonzalez-Giraldo, Ernesto E; Fulton, Stephen S; Sogawa, Yoshimi Y; Burns, Kaitlyn K; Malets, Myroslava M; Montiel Blanco, Johnny David JD; Habela, Christa W CW; Wilson, Carey A CA; Guzmán, Guillermo G GG; Pavliuk, Mariia M
Publication Date: 2022-10-31

Variant appearance in text: GRIN1: 2530C>T; Arg844Cys
PubMed Link: 36315135
Variant Present in the following documents:
  • jamaneurol-e223651-s001.pdf
View BVdb publication page



De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021

Variant appearance in text: GRIN1: 2530C>T; R844C
PubMed Link: 33777337
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Brain : A Journal Of Neurology
Fry, Andrew E AE; Fawcett, Katherine A KA; Zelnik, Nathanel N; Yuan, Hongjie H; Thompson, Belinda A N BAN; Shemer-Meiri, Lilach L; Cushion, Thomas D TD; Mugalaasi, Hood H; Sims, David D; Stoodley, Neil N; Chung, Seo-Kyung SK; Rees, Mark I MI; Patel, Chirag V CV; Brueton, Louise A LA; Layet, Valérie V; Giuliano, Fabienne F; Kerr, Michael P MP; Banne, Ehud E; Meiner, Vardiella V; Lerman-Sagie, Tally T; Helbig, Katherine L KL; Kofman, Laura H LH; Knight, Kristin M KM; Chen, Wenjuan W; Kannan, Varun V; Hu, Chun C; Kusumoto, Hirofumi H; Zhang, Jin J; Swanger, Sharon A SA; Shaulsky, Gil H GH; Mirzaa, Ghayda M GM; Muir, Alison M AM; Mefford, Heather C HC; Dobyns, William B WB; Mackenzie, Amanda B AB; Mullins, Jonathan G L JGL; Lemke, Johannes R JR; Bahi-Buisson, Nadia N; Traynelis, Stephen F SF; Iago, Heledd F HF; Pilz, Daniela T DT
Publication Date: 2018-03-01

Variant appearance in text: GRIN1: R844C
PubMed Link: 29365063
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Neuroscience Bulletin
Xu, Xing-Xing XX; Luo, Jian-Hong JH
Publication Date: 2018-06

Variant appearance in text: GRIN1: 2530C>T
PubMed Link: 29124671
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin
Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP
Publication Date: 2017-08

Variant appearance in text: GRIN1: R844C
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.

Journal Of Human Genetics
Chen, Wenjuan W; Shieh, Christine C; Swanger, Sharon A SA; Tankovic, Anel A; Au, Margaret M; McGuire, Marianne M; Tagliati, Michele M; Graham, John M JM; Madan-Khetarpal, Suneeta S; Traynelis, Stephen F SF; Yuan, Hongjie H; Pierson, Tyler Mark TM
Publication Date: 2017-06

Variant appearance in text: GluN1: R844C
PubMed Link: 28228639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Neurology
Lemke, Johannes R JR; Geider, Kirsten K; Helbig, Katherine L KL; Heyne, Henrike O HO; Schütz, Hannah H; Hentschel, Julia J; Courage, Carolina C; Depienne, Christel C; Nava, Caroline C; Heron, Delphine D; Møller, Rikke S RS; Hjalgrim, Helle H; Lal, Dennis D; Neubauer, Bernd A BA; Nürnberg, Peter P; Thiele, Holger H; Kurlemann, Gerhard G; Arnold, Georgianne L GL; Bhambhani, Vikas V; Bartholdi, Deborah D; Pedurupillay, Christeen Ramane J CR; Misceo, Doriana D; Frengen, Eirik E; Strømme, Petter P; Dlugos, Dennis J DJ; Doherty, Emily S ES; Bijlsma, Emilia K EK; Ruivenkamp, Claudia A CA; Hoffer, Mariette J V MJ; Goldstein, Amy A; Rajan, Deepa S DS; Narayanan, Vinodh V; Ramsey, Keri K; Belnap, Newell N; Schrauwen, Isabelle I; Richholt, Ryan R; Koeleman, Bobby P C BP; Sá, Joaquim J; Mendonça, Carla C; de Kovel, Carolien G F CG; Weckhuysen, Sarah S; Hardies, Katia K; De Jonghe, Peter P; De Meirleir, Linda L; Milh, Mathieu M; Badens, Catherine C; Lebrun, Marine M; Busa, Tiffany T; Francannet, Christine C; Piton, Amélie A; Riesch, Erik E; Biskup, Saskia S; Vogt, Heinrich H; Dorn, Thomas T; Helbig, Ingo I; Michaud, Jacques L JL; Laube, Bodo B; Syrbe, Steffen S
Publication Date: 2016-06-07

Variant appearance in text: GRIN1: Arg844Cys
PubMed Link: 27164704
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2015694455.pdf
  • supp_WNL.0000000000002740_Tables.pdf
View BVdb publication page



ENU-mutagenesis mice with a non-synonymous mutation in Grin1 exhibit abnormal anxiety-like behaviors, impaired fear memory, and decreased acoustic startle response.

Bmc Research Notes
Umemori, Juzoh J; Takao, Keizo K; Koshimizu, Hisatsugu H; Hattori, Satoko S; Furuse, Tamio T; Wakana, Shigeharu S; Miyakawa, Tsuyoshi T
Publication Date: 2013-05-21

Variant appearance in text: GRIN1: R844C
PubMed Link: 23688147
Variant Present in the following documents:
  • Main text
View BVdb publication page