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

4 papers

NM_001134407.3

p.E803delFs

c.2408delT

Surrounding Variants

2 papers

NM_001134407.3

p.E803A

c.2408A>C

5 papers

NM_001134407.3

p.E803*

c.2407G>T

3 papers

NM_001134407.3

p.E803K

c.2407G>A

3 papers

NM_001134407.3

p.E803fs

c.2407_2408fs

1 paper

NM_001134407.3

p.K804N

c.2412G>C

1 paper

NM_001134407.3

p.N802K

c.2406C>A

1 paper

NM_001134407.3

p.H801Q

c.2403C>G

1 paper

NM_001134407.3

p.H801Q

c.2403C>A

2 papers

NM_001134407.3

p.E806K

c.2416G>A

1 paper

NM_001134407.3

p.E806A

c.2417A>C

2 papers

NM_001134407.3

p.C800*

c.2400C>A

1 paper

NM_001134407.3

p.G798E

c.2393G>A