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.K590N

c.1770A>C

Surrounding Variants

5 papers

NM_001134407.3

p.K590N

c.1770A>T

2 papers

NM_001134407.3

p.G591R

c.1771G>C

2 papers

NM_001134407.3

p.G591R

c.1771G>A

1 paper

NM_001134407.3

p.K590R

c.1769A>G

1 paper

NM_001134407.3

p.K590T

c.1769A>C

1 paper

NM_001134407.3

p.G591V

c.1772G>T

1 paper

NM_001134407.3

p.K592E

c.1774A>G

1 paper

NM_001134407.3

p.A589S

c.1765G>T

2 papers

NM_001134407.3

p.K592fs

c.1774_1775fs

1 paper

NM_001134407.3

p.L588V

c.1762T>G

1 paper

NM_001134407.3

p.L588I

c.1762T>A

8 papers

NM_001134407.3

p.R586K

c.1757G>A