GRIN2A c.2146G>A ;(p.A716T)

Variant ID: 16-9916143-C-T

NM_001134407.1(GRIN2A):c.2146G>A;(p.A716T)

This variant was identified in 16 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: 2146G>A; Ala716Thr
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: A716T
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: A716T
PubMed Link: 35936491
Variant Present in the following documents:
  • Main text
  • fncel-16-907560.pdf
View BVdb publication page



Molecular convergence and transgenic evidence suggest a single origin of laryngeal echolocation in bats.

Iscience
Liu, Zhen Z; Chen, Peng P; Xu, Dong-Ming DM; Qi, Fei-Yan FY; Guo, Yuan-Ting YT; Liu, Qi Q; Bai, Jing J; Zhou, Xin X; Shi, Peng P
Publication Date: 2022-04-15

Variant appearance in text: GRIN2A: A716T
PubMed Link: 35391832
Variant Present in the following documents:
  • mmc13.xlsx, sheet 1
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: Ala716Thr
PubMed Link: 34301626
Variant Present in the following documents:
  • supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1
View BVdb publication page



The Extracellular Domains of GluN Subunits Play an Essential Role in Processing NMDA Receptors in the ER.

Frontiers In Neuroscience
Horak, Martin M; Barackova, Petra P; Langore, Emily E; Netolicky, Jakub J; Rivas-Ramirez, Paula P; Rehakova, Kristyna K
Publication Date: 2021

Variant appearance in text: GluN2A: A716T
PubMed Link: 33796003
Variant Present in the following documents:
  • Main text
  • fnins-15-603715.pdf
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: GluN2A: Ala716Thr
PubMed Link: 33240831
Variant Present in the following documents:
  • Main text
  • fped-08-574803.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: GRIN2A: A716T
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Positive allosteric modulators that target NMDA receptors rectify loss-of-function GRIN variants associated with neurological and neuropsychiatric disorders.

Neuropharmacology
Tang, Weiting W; Liu, Ding D; Traynelis, Stephen F SF; Yuan, Hongjie H
Publication Date: 2020-10-15

Variant appearance in text: GRIN2A: 2146G>A
PubMed Link: 32712275
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: GRIN2A: 2146G>A; A716T
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
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: 2146G>A
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: 2146G>A; Ala716Thr
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page



Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit.

Frontiers In Cellular Neuroscience
Sibarov, Dmitry A DA; Bruneau, Nadine N; Antonov, Sergei M SM; Szepetowski, Pierre P; Burnashev, Nail N; Giniatullin, Rashid R
Publication Date: 2017

Variant appearance in text: GluN2A: A716T
PubMed Link: 28611597
Variant Present in the following documents:
  • Main text
  • fncel-11-00155.pdf
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: A716T
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

American Journal Of Human Genetics
Swanger, Sharon A SA; Chen, Wenjuan W; Wells, Gordon G; Burger, Pieter B PB; Tankovic, Anel A; Bhattacharya, Subhrajit S; Strong, Katie L KL; Hu, Chun C; Kusumoto, Hirofumi H; Zhang, Jing J; Adams, David R DR; Millichap, John J JJ; Petrovski, Slavé S; Traynelis, Stephen F SF; Yuan, Hongjie H
Publication Date: 2016-12-01

Variant appearance in text: GluN2A: 2146G>A
PubMed Link: 27839871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: GRIN2A: A716T
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page