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.N432S

c.1295A>G

Surrounding Variants

1 paper

NM_001134407.3

p.R431S

c.1293G>T

1 paper

NM_001134407.3

p.R431S

c.1293G>C

1 paper

NM_001134407.3

p.R431K

c.1292G>A

1 paper

NM_001134407.3

p.V434A

c.1301T>C

1 paper

NM_001134407.3

p.V430L

c.1288G>T

1 paper

NM_001134407.3

p.V430L

c.1288G>C

1 paper

NM_001134407.3

p.V430fs

c.1288_1289fs

1 paper

NM_001134407.3

p.P435L

c.1304C>T

1 paper

NM_001134407.3

p.P435Q

c.1304C>A

28 papers

NM_001134407.3

p.C436R

c.1306T>C

1 paper

NM_001134407.3

p.V430_P435del6

c.1288_1304del18

1 paper

NM_001134407.3

p.T428M

c.1283C>T