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.A825T

c.2473G>A

Surrounding Variants

1 paper

NM_001134407.3

p.A825P

c.2473G>C

1 paper

NM_001134407.3

p.A818_M823del0

c.2452_2469del18

2 papers

NM_001134407.3

p.M823I

c.2469G>T

1 paper

NM_001134407.3

p.M823I

c.2469G>C

1 paper

NM_001134407.3

p.M823I

c.2469G>A

1 paper

NM_001134407.3

p.M823T

c.2468T>C

1 paper

NM_001134407.3

p.A826A

c.2478C>T

3 papers

NM_001134407.3

p.A827T

c.2479G>A

1 paper

NM_001134407.3

p.M823L

c.2467A>T

1 paper

NM_001134407.3

p.M823V

c.2467A>G

1 paper

NM_001134407.3

p.M823L

c.2467A>C

1 paper

NM_001134407.3

p.Y822C

c.2465A>G