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

1 paper

NM_001134407.3

p.S511fs

c.1531_1532fs

Surrounding Variants

1 paper

NM_001134407.3

p.S511A

c.1531T>G

1 paper

NM_001134407.3

p.S511P

c.1531T>C

5 papers

NM_001134407.3

p.S511L

c.1532C>T

1 paper

NM_001134407.3

p.G510insFs

c.1529dupG

1 paper

NM_001134407.3

p.G510A

c.1529G>C

1 paper

NM_001134407.3

p.G510C

c.1528G>T

1 paper

NM_001134407.3

p.G510S

c.1528G>A

1 paper

NM_001134407.3

p.T513S

c.1537A>T

2 papers

NM_001134407.3

p.T513A

c.1537A>G

1 paper

NM_001134407.3

p.T513I

c.1538C>T

1 paper

NM_001134407.3

p.T513S

c.1538C>G

1 paper

NM_001134407.3

p.T513N

c.1538C>A