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

3 papers

NM_001134407.3

p.M788I

c.2364G>C

Surrounding Variants

3 papers

NM_001134407.3

p.M788I

c.2364G>T

5 papers

NM_001134407.3

p.M788I

c.2364G>A

1 paper

NM_001134407.3

p.M788T

c.2363T>C

1 paper

NM_001134407.3

p.E789Q

c.2365G>C

2 papers

NM_001134407.3

p.E789K

c.2365G>A

1 paper

NM_001134407.3

p.E789D

c.2367G>T

1 paper

NM_001134407.3

p.E789D

c.2367G>C

1 paper

NM_001134407.3

p.E790*

c.2368G>T

1 paper

NM_001134407.3

p.E787A

c.2360A>C

1 paper

NM_001134407.3

p.E787Q

c.2359G>C

2 papers

NM_001134407.3

p.E787K

c.2359G>A

1 paper

NM_001134407.3

p.E790D

c.2370G>T