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.L385M

c.1153C>A

Surrounding Variants

1 paper

NM_001134407.3

p.T382M

c.1145C>T

1 paper

NM_001134407.3

p.H387Q

c.1161C>G

1 paper

NM_001134407.3

p.H387Q

c.1161C>A

1 paper

NM_001134407.3

p.A388T

c.1162G>A

1 paper

NM_001134407.3

p.N380T

c.1139A>C

2 papers

NM_001134407.3

p.E379G

c.1136A>G

1 paper

NM_001134407.3

p.E379K

c.1135G>A

1 paper

NM_001134407.3

p.Y393*

c.1179C>G

1 paper

NM_001134407.3

p.Y393*

c.1179C>A

2 papers

NM_001134407.3

p.G376S

c.1126G>A

4 papers

NM_001134407.3

p.V375fs

c.1123_1124fs

1 paper

NM_001134407.3

p.K394R

c.1181A>G