GRIN1 c.1923G>A ;(p.M641I)

Variant ID: 9-140057101-G-A

NM_007327.3(GRIN1):c.1923G>A;(p.M641I)

This variant was identified in 15 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: 1923G>A; Met641Ile
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: GRIN1: 1923G>A; M641I
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Protein quality control of N-methyl-D-aspartate receptors.

Frontiers In Cellular Neuroscience
Benske, Taylor M TM; Mu, Ting-Wei TW; Wang, Ya-Juan YJ
Publication Date: 2022

Variant appearance in text: GluN1: M641I
PubMed Link: 35936491
Variant Present in the following documents:
  • Main text
  • fncel-16-907560.pdf
View BVdb publication page



Recurrent seizure-related GRIN1 variant: Molecular mechanism and targeted therapy.

Annals Of Clinical And Translational Neurology
Xu, Yuchen Y; Song, Rui R; Chen, Wenjuan W; Strong, Katie K; Shrey, Daniel D; Gedela, Satyanarayana S; Traynelis, Stephen F SF; Zhang, Guojun G; Yuan, Hongjie H
Publication Date: 2021-07

Variant appearance in text: GRIN1: 1923G>A
PubMed Link: 34227748
Variant Present in the following documents:
  • Main text
  • ACN3-8-1480.pdf
View BVdb publication page



Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.

Epilepsy & Behavior Reports
Arisaka, Atsuko A; Nakashima, Mitsuko M; Kumada, Satoko S; Inoue, Kenji K; Nishida, Hiroya H; Mashimo, Hideaki H; Kashii, Hirofumi H; Kato, Mitsuhiro M; Maruyama, Koichi K; Okumura, Akihisa A; Saitsu, Hirotomo H; Matsumoto, Naomichi N; Fukuda, Mitsumasa M
Publication Date: 2021

Variant appearance in text: GRIN1: 1923G>A; Met641Ile
PubMed Link: 33490948
Variant Present in the following documents:
  • Main text
View BVdb publication page



Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09

Variant appearance in text: GRIN1: 1923G>A; Met641Ile
PubMed Link: 31440721
Variant Present in the following documents:
  • EPI4-4-397-s003.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: Met641Ile
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: 1923G>A
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: M641I
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: GRIN1: M641I
PubMed Link: 28228639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

Plos Genetics
Ogden, Kevin K KK; Chen, Wenjuan W; Swanger, Sharon A SA; McDaniel, Miranda J MJ; Fan, Linlin Z LZ; Hu, Chun C; Tankovic, Anel A; Kusumoto, Hirofumi H; Kosobucki, Gabrielle J GJ; Schulien, Anthony J AJ; Su, Zhuocheng Z; Pecha, Joseph J; Bhattacharya, Subhrajit S; Petrovski, Slavé S; Cohen, Adam E AE; Aizenman, Elias E; Traynelis, Stephen F SF; Yuan, Hongjie H
Publication Date: 2017-01

Variant appearance in text: GRIN1: 1923G>A
PubMed Link: 28095420
Variant Present in the following documents:
  • pgen.1006536.s003.pdf
  • pgen.1006536.s009.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: GRIN1: M641I
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
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: 1923G>A; Met641Ile
PubMed Link: 27164704
Variant Present in the following documents:
  • supp_WNL.0000000000002740_Tables.pdf
  • NEUROLOGY2015694455.pdf
View BVdb publication page



In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Neurology. Genetics
Oliver, Karen L KL; Lukic, Vesna V; Freytag, Saskia S; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Bahlo, Melanie M
Publication Date: 2016-02

Variant appearance in text: GRIN1: 1923G>A; Met641Ile
PubMed Link: 27066588
Variant Present in the following documents:
  • supp_2.1.e51_table_e-2.xlsx, sheet 1
View BVdb publication page



GRIN1 Mutations in Early-Onset Epileptic Encephalopathy.

Pediatric Neurology Briefs
Chen, Wenjuan W; Yuan, Hongjie H
Publication Date: 2015-06

Variant appearance in text: GRIN1: M641I
PubMed Link: 26933583
Variant Present in the following documents:
  • Main text
  • PNB-29-44.pdf
View BVdb publication page