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.P552A

c.1654C>G

Surrounding Variants

2 papers

NM_001134407.3

p.P552L

c.1655C>T

33 papers

NM_001134407.3

p.P552R

c.1655C>G

2 papers

NM_001134407.3

p.P552Q

c.1655C>A

2 papers

NM_001134407.3

p.E551A

c.1652A>C

1 paper

NM_001134407.3

p.F553L

c.1657T>C

1 paper

NM_001134407.3

p.E551Q

c.1651G>C

7 papers

NM_001134407.3

p.E551K

c.1651G>A

1 paper

NM_001134407.3

p.F553C

c.1658T>G

4 papers

NM_001134407.3

p.F553Y

c.1658T>A

1 paper

NM_001134407.3

p.F553L

c.1659C>G

1 paper

NM_001134407.3

p.F553L

c.1659C>A

1 paper

NM_001134407.3

p.S554R

c.1660A>C