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

41 papers

NM_001134407.3

p.N615K

c.1845C>G

Surrounding Variants

45 papers

NM_001134407.3

p.N615K

c.1845C>A

1 paper

NM_001134407.3

p.S616A

c.1846T>G

9 papers

NM_001134407.3

p.N615I

c.1844A>T

6 papers

NM_001134407.3

p.N615S

c.1844A>G

2 papers

NM_001134407.3

p.N615T

c.1844A>C

1 paper

NM_001134407.3

p.S616F

c.1847C>T

1 paper

NM_001134407.3

p.S616Y

c.1847C>A

1 paper

NM_001134407.3

p.N614K

c.1842T>G

1 paper

NM_001134407.3

p.N614K

c.1842T>A

1 paper

NM_001134407.3

p.V617L

c.1849G>T

1 paper

NM_001134407.3

p.V617L

c.1849G>C

4 papers

NM_001134407.3

p.V617M

c.1849G>A