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

26 papers

NM_001134407.3

p.T531M

c.1592C>T

Surrounding Variants

1 paper

NM_001134407.3

p.T531A

c.1591A>G

1 paper

NM_001134407.3

p.F528_E530del0

c.1582_1590del9

1 paper

NM_001134407.3

p.E530D

c.1590A>T

1 paper

NM_001134407.3

p.E530D

c.1590A>C

3 papers

NM_001134407.3

p.G532V

c.1595G>T

1 paper

NM_001134407.3

p.G532E

c.1595G>A

1 paper

NM_001134407.3

p.V529fs

c.1585_1586fs

4 papers

NM_001134407.3

p.V529delFs

c.1586delA

1 paper

NM_001134407.3

p.V529A

c.1586T>C

6 papers

NM_001134407.3

p.V529delFs

c.1585delC

2 papers

NM_001134407.3

p.V529L

c.1585G>T

2 papers

NM_001134407.3

p.V529L

c.1585G>C