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.A733E

c.2198C>A

Surrounding Variants

1 paper

NM_001134407.3

p.A733S

c.2197G>T

7 papers

NM_001134407.3

p.A733T

c.2197G>A

21 papers

NM_001134407.3

p.V734L

c.2200G>C

2 papers

NM_001134407.3

p.V734I

c.2200G>A

1 paper

NM_001134407.3

p.A732A

c.2196C>G

1 paper

NM_001134407.3

p.V734D

c.2201T>A

1 paper

NM_001134407.3

p.A732D

c.2195C>A

1 paper

NM_001134407.3

p.A732S

c.2194G>T

3 papers

NM_001134407.3

p.D731E

c.2193T>G

3 papers

NM_001134407.3

p.D731E

c.2193T>A

1 paper

NM_001134407.3

p.L735M

c.2203T>A

1 paper

NM_001134407.3

p.L735S

c.2204T>C