GRIN2A c.1648_1649delinsGC ;(p.L550A)

Variant ID: 16-9934506-AG-GC

NM_001134407.1(GRIN2A):c.1648_1649delinsGC;(p.L550A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: L550A
PubMed Link: 34301626
Variant Present in the following documents:
  • supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1
View BVdb publication page



Cross-subunit interactions that stabilize open states mediate gating in NMDA receptors.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Iacobucci, Gary J GJ; Wen, Han H; Helou, Matthew M; Liu, Beiying B; Zheng, Wenjun W; Popescu, Gabriela K GK
Publication Date: 2021-01-12

Variant appearance in text: GluN2A: L550A
PubMed Link: 33384330
Variant Present in the following documents:
  • Main text
  • pnas.202007511.pdf
View BVdb publication page



NMDA receptor channel gating control by the pre-M1 helix.

The Journal Of General Physiology
McDaniel, Miranda J MJ; Ogden, Kevin K KK; Kell, Steven A SA; Burger, Pieter B PB; Liotta, Dennis C DC; Traynelis, Stephen F SF
Publication Date: 2020-04-06

Variant appearance in text: GluN2A: L550A
PubMed Link: 32221541
Variant Present in the following documents:
  • Main text
  • JGP_201912362.pdf
View BVdb publication page