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

29 papers

NM_001134407.3

p.R518H

c.1553G>A

Surrounding Variants

2 papers

NM_001134407.3

p.R518L

c.1553G>T

13 papers

NM_001134407.3

p.R518C

c.1552C>T

1 paper

NM_001134407.3

p.S519C

c.1556C>G

1 paper

NM_001134407.3

p.E517K

c.1549G>A

1 paper

NM_001134407.3

p.E520K

c.1558G>A

1 paper

NM_001134407.3

p.E516K

c.1546G>A

1 paper

NM_001134407.3

p.E520D

c.1560A>T

1 paper

NM_001134407.3

p.E520D

c.1560A>C

1 paper

NM_001134407.3

p.N515fs

c.1543_1544fs

1 paper

NM_001134407.3

p.E520delFs

c.1560delT

1 paper

NM_001134407.3

p.V521fs

c.1561_1562fs

1 paper

NM_001134407.3

p.N515D

c.1543A>G