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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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