Varaico: Literature-Extracted Genetic Variants

GRIN2A

1,076 papers

RefSeq Summary

This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-d...

Pfam Domains

ANF_receptoraa 66–330UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 404–541UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 554–828UCSCLigand-gated ion channel

NMDAR2_Caa 839–1464UCSCN-methyl D-aspartate receptor 2B3 C-terminus

Gene Aliases

HGNC Name

glutamate ionotropic receptor NMDA type subunit 2A

HGNC Previous Symbol

NMDAR2A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001134407.3

p.S752fs

c.2254_2255fs

Surrounding Variants

1 paper

NM_001134407.3

p.S752G

c.2254A>G

4 papers

NM_001134407.3

p.G751insFs

c.2253dupG

1 paper

NM_001134407.3

p.G751E

c.2252G>A

1 paper

NM_001134407.3

p.G751W

c.2251G>T

2 papers

NM_001134407.3

p.G753R

c.2257G>C

1 paper

NM_001134407.3

p.G751R

c.2251G>C

3 papers

NM_001134407.3

p.G753R

c.2257G>A

1 paper

NM_001134407.3

p.G751R

c.2251G>A

1 paper

NM_001134407.3

p.G753A

c.2258G>C

1 paper

NM_001134407.3

p.G753E

c.2258G>A

1 paper

NM_001134407.3

p.I750V

c.2248A>G

2 papers

NM_001134407.3

p.T749I

c.2246C>T