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

5 papers

NM_001134407.3

p.V685A

c.2054T>C

Surrounding Variants

19 papers

NM_001134407.3

p.V685G

c.2054T>G

1 paper

NM_001134407.3

p.V685E

c.2054T>A

5 papers

NM_001134407.3

p.T684A

c.2050A>G

1 paper

NM_001134407.3

p.N687D

c.2059A>G

1 paper

NM_001134407.3

p.G683A

c.2048G>C

1 paper

NM_001134407.3

p.G683E

c.2048G>A

1 paper

NM_001134407.3

p.N687K

c.2061T>G

1 paper

NM_001134407.3

p.N687K

c.2061T>A

1 paper

NM_001134407.3

p.F682Y

c.2045T>A

4 papers

NM_001134407.3

p.G688A

c.2063G>C

1 paper

NM_001134407.3

p.S689C

c.2065A>T

1 paper

NM_001134407.3

p.S689G

c.2065A>G