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.




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