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