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.A716S

c.2146G>T

Surrounding Variants

28 papers

NM_001134407.3

p.A716T

c.2146G>A

1 paper

NM_001134407.3

p.A716V

c.2147C>T

1 paper

NM_001134407.3

p.A716D

c.2147C>A

1 paper

NM_001134407.3

p.D715V

c.2144A>T

1 paper

NM_001134407.3

p.D715A

c.2144A>C

1 paper

NM_001134407.3

p.D715delFs

c.2143delC

1 paper

NM_001134407.3

p.E714A

c.2141A>C

2 papers

NM_001134407.3

p.E714delFs

c.2140delC

1 paper

NM_001134407.3

p.V718F

c.2152G>T

1 paper

NM_001134407.3

p.V718L

c.2152G>C

18 papers

NM_001134407.3

p.E714K

c.2140G>A

1 paper

NM_001134407.3

p.V718I

c.2152G>A