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

21 papers

NM_001134407.3

p.R504W

c.1510C>T

Surrounding Variants

2 papers

NM_001134407.3

p.R504Q

c.1511G>A

1 paper

NM_001134407.3

p.A505T

c.1513G>A

1 paper

NM_001134407.3

p.Q503*

c.1507C>T

1 paper

NM_001134407.3

p.Y502F

c.1505A>T

2 papers

NM_001134407.3

p.V506L

c.1516G>C

1 paper

NM_001134407.3

p.V506I

c.1516G>A

14 papers

NM_001134407.3

p.V506A

c.1517T>C

1 paper

NM_001134407.3

p.V501V

c.1503C>A

1 paper

NM_001134407.3

p.M507L

c.1519A>T

1 paper

NM_001134407.3

p.M507L

c.1519A>C

1 paper

NM_001134407.3

p.M507T

c.1520T>C

1 paper

NM_001134407.3

p.M507K

c.1520T>A