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GRIN2A c.1195_1196delinsGC ;(p.C399A)
Variant ID: 16-9943745-CA-GC
NM_001134407.1(
GRIN2A
):c.1195_1196delinsGC;(p.C399A)
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:
Arrangement of subunits in functional NMDA receptors.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Salussolia, Catherine L CL; Prodromou, Michael L ML; Borker, Priya P; Wollmuth, Lonnie P LP
Publication Date: 2011-08-03
Variant appearance in text: GluN2A: C399A
PubMed Link:
21813689
Variant Present in the following documents:
Main text
View BVdb publication page
Local constraints in either the GluN1 or GluN2 subunit equally impair NMDA receptor pore opening.
The Journal Of General Physiology
Talukder, Iehab I; Wollmuth, Lonnie P LP
Publication Date: 2011-08
Variant appearance in text: GluN2A: C399A
PubMed Link:
21746848
Variant Present in the following documents:
Main text
JGP_201110623.pdf
View BVdb publication page
Specific sites within the ligand-binding domain and ion channel linkers modulate NMDA receptor gating.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Talukder, Iehab I; Borker, Priya P; Wollmuth, Lonnie P LP
Publication Date: 2010-09-01
Variant appearance in text: GluN2A: C399A
PubMed Link:
20810899
Variant Present in the following documents:
Main text
View BVdb publication page