GRIN2A c.2456G>C ;(p.G819A)

Variant ID: 16-9862847-C-G

NM_001134407.1(GRIN2A):c.2456G>C;(p.G819A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Two gates mediate NMDA receptor activity and are under subunit-specific regulation.

Nature Communications
Amin, Johansen B JB; He, Miaomiao M; Prasad, Ramesh R; Leng, Xiaoling X; Zhou, Huan-Xiang HX; Wollmuth, Lonnie P LP
Publication Date: 2023-03-23

Variant appearance in text: GluN2A: G819A
PubMed Link: 36959168
Variant Present in the following documents:
  • Main text
  • 41467_2023_37260_MOESM1_ESM.pdf
  • 41467_2023_Article_37260.pdf
  • 41467_2023_37260_MOESM2_ESM.pdf
View BVdb publication page



Identification of homologous GluN subunits variants accelerates GRIN variants stratification.

Frontiers In Cellular Neuroscience
Santos-Gómez, Ana A; García-Recio, Adrián A; Miguez-Cabello, Federico F; Soto, David D; Altafaj, Xavier X; Olivella, Mireia M
Publication Date: 2022

Variant appearance in text: GluN2A: Gly819Ala
PubMed Link: 36619673
Variant Present in the following documents:
  • Main text
  • fncel-16-998719.pdf
View BVdb publication page



A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca2+ permeability.

Nature Communications
Amin, Johansen B JB; Leng, Xiaoling X; Gochman, Aaron A; Zhou, Huan-Xiang HX; Wollmuth, Lonnie P LP
Publication Date: 2018-09-14

Variant appearance in text: GluN2A: G819A
PubMed Link: 30217972
Variant Present in the following documents:
  • Main text
  • 41467_2018_6145_MOESM1_ESM.pdf
  • 41467_2018_Article_6145.pdf
View BVdb publication page