GRIN2A c.236C>G ;(p.P79R)

Variant ID: 16-10274033-G-C

NM_001134407.1(GRIN2A):c.236C>G;(p.P79R)

This variant was identified in 13 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: GRIN2A: 236C>G; Pro79Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)
Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G
Publication Date: 2022-09-01

Variant appearance in text: GluN2A: P79R
PubMed Link: 36102617
Variant Present in the following documents:
  • develop-149-198853-s1.pdf
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: GluN2A: P79R
PubMed Link: 35936491
Variant Present in the following documents:
  • Main text
  • fncel-16-907560.pdf
View BVdb publication page



Three-dimensional missense tolerance ratio analysis.

Genome Research
Perszyk, Riley E RE; Kristensen, Anders S AS; Lyuboslavsky, Polina P; Traynelis, Stephen F SF
Publication Date: 2021-08

Variant appearance in text: GRIN2A: P79R
PubMed Link: 34301626
Variant Present in the following documents:
  • supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1
View BVdb publication page



GRIN2A Variant in A 3-Year-Old-An Expanding Spectrum?

Neurology International
Gheța, Ioana I; Teleanu, Raluca Ioana RI; Roza, Eugenia E; Carapancea, Evelina E; Vladacenco, Oana O; Teleanu, Daniel Mihai DM
Publication Date: 2021-04-29

Variant appearance in text: GRIN2A: P79R
PubMed Link: 33946630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.

Frontiers In Pediatrics
Li, Xiao X; Xie, Ling-Ling LL; Han, Wei W; Hong, Si-Qi SQ; Ma, Jian-Nan JN; Wang, Juan J; Jiang, Li L
Publication Date: 2020

Variant appearance in text: GRIN2A: 236C>G
PubMed Link: 33240831
Variant Present in the following documents:
  • Main text
  • fped-08-574803.pdf
View BVdb publication page



Synaptic GluN2A-Containing NMDA Receptors: From Physiology to Pathological Synaptic Plasticity.

International Journal Of Molecular Sciences
Franchini, Luca L; Carrano, Nicolò N; Di Luca, Monica M; Gardoni, Fabrizio F
Publication Date: 2020-02-24

Variant appearance in text: GluN2A: P79R
PubMed Link: 32102377
Variant Present in the following documents:
  • Main text
  • ijms-21-01538.pdf
View BVdb publication page



Marine Mammals' NMDA Receptor Structure: Possible Adaptation to High Pressure Environment.

Frontiers In Physiology
Bliznyuk, Alice A; Golan, Hava H; Grossman, Yoram Y
Publication Date: 2018

Variant appearance in text: GluN2A: P79R
PubMed Link: 30524300
Variant Present in the following documents:
  • Main text
  • fphys-09-01633.pdf
View BVdb publication page



Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.

Bmc Genetics
Kessi, Miriam M; Peng, Jing J; Yang, Lifen L; Xiong, Juan J; Duan, Haolin H; Pang, Nan N; Yin, Fei F
Publication Date: 2018-07-06

Variant appearance in text: GRIN2A: 236C>G
PubMed Link: 29976148
Variant Present in the following documents:
  • Main text
  • 12863_2018_Article_628.pdf
View BVdb publication page



Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10

Variant appearance in text: GRIN2A: 236C>G; Pro79Arg
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
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: GRIN2A: P79R
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.

Scientific Reports
Addis, L L; Virdee, J K JK; Vidler, L R LR; Collier, D A DA; Pal, D K DK; Ursu, D D
Publication Date: 2017-02-27

Variant appearance in text: GluN2A: 236C>G
PubMed Link: 28242877
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_115.pdf
View BVdb publication page



Molecular Basis for Subtype Specificity and High-Affinity Zinc Inhibition in the GluN1-GluN2A NMDA Receptor Amino-Terminal Domain.

Neuron
Romero-Hernandez, Annabel A; Simorowski, Noriko N; Karakas, Erkan E; Furukawa, Hiro H
Publication Date: 2016-12-21

Variant appearance in text: GluN2A: Pro79Arg
PubMed Link: 27916457
Variant Present in the following documents:
  • Main text
View BVdb publication page