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.F576L

c.1728T>A

Surrounding Variants

1 paper

NM_001134407.3

p.F576L

c.1728T>G

1 paper

NM_001134407.3

p.F576L

c.1726T>C

1 paper

NM_001134407.3

p.F576I

c.1726T>A

1 paper

NM_001134407.3

p.V575L

c.1723G>C

1 paper

NM_001134407.3

p.Y578F

c.1733A>T

1 paper

NM_001134407.3

p.F574L

c.1722T>G

1 paper

NM_001134407.3

p.F574L

c.1722T>A

1 paper

NM_001134407.3

p.F574L

c.1720T>C

1 paper

NM_001134407.3

p.F579Y

c.1736T>A

1 paper

NM_001134407.3

p.V573delFs

c.1717delC

1 paper

NM_001134407.3

p.S580G

c.1738A>G

1 paper

NM_001134407.3

p.V573fs

c.1717_1718fs