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GRIN2A c.130_131delinsGC ;(p.H44A)
Variant ID: 16-10274138-TG-GC
NM_001134407.1(
GRIN2A
):c.130_131delinsGC;(p.H44A)
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: H44A
PubMed Link:
34301626
Variant Present in the following documents:
supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1
View BVdb publication page
Molecular Basis for Subtype Specificity and High-Affinity Zinc Inhibition in the GluN1-GluN2A NMDA Receptor Amino-Terminal Domain.
Neuron
Romero-Hernandez, Annabel A; Simorowski, Noriko N; Karakas, Erkan E; Furukawa, Hiro H
Publication Date: 2016-12-21
Variant appearance in text: GluN2A: His44Ala
PubMed Link:
27916457
Variant Present in the following documents:
Main text
View BVdb publication page
Amino-terminal domain tetramer organization and structural effects of zinc binding in the N-methyl-D-aspartate (NMDA) receptor.
The Journal Of Biological Chemistry
Sirrieh, Rita E RE; MacLean, David M DM; Jayaraman, Vasanthi V
Publication Date: 2013-08-02
Variant appearance in text: GluN2A: H44A
PubMed Link:
23792960
Variant Present in the following documents:
Main text
View BVdb publication page