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.P597T

c.1789C>A

Surrounding Variants

1 paper

NM_001134407.3

p.P597S

c.1789C>T

1 paper

NM_001134407.3

p.G596R

c.1786G>A

1 paper

NM_001134407.3

p.H595delFs

c.1785delA

2 papers

NM_001134407.3

p.H595delFs

c.1783_1784delTG

2 papers

NM_001134407.3

p.S598F

c.1793C>T

1 paper

NM_001134407.3

p.S598S

c.1794T>G

2 papers

NM_001134407.3

p.H595R

c.1784A>G

2 papers

NM_001134407.3

p.H595delFs

c.1783delG

4 papers

NM_001134407.3

p.H595fs

c.1783_1784fs

1 paper

NM_001134407.3

p.P594_H595insFs

c.1782_1783insTT

1 paper

NM_001134407.3

p.P594L

c.1781C>T

1 paper

NM_001134407.3

p.P594insFs

c.1781_1782insTT