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.P401L

c.1202C>T

Surrounding Variants

1 paper

NM_001134407.3

p.D402fs

c.1204_1205fs

1 paper

NM_001134407.3

p.D402delFs

c.1204delC

1 paper

NM_001134407.3

p.E400Q

c.1198G>C

1 paper

NM_001134407.3

p.C399*

c.1197T>A

1 paper

NM_001134407.3

p.C399S

c.1196G>C

1 paper

NM_001134407.3

p.C399S

c.1195T>A

1 paper

NM_001134407.3

p.N404N

c.1212C>T

1 paper

NM_001134407.3

p.S397S

c.1191C>T

1 paper

NM_001134407.3

p.S407R

c.1219A>C

1 paper

NM_001134407.3

p.S407R

c.1221C>G

1 paper

NM_001134407.3

p.S407R

c.1221C>A

1 paper

NM_001134407.3

p.K394N

c.1182G>T