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.F459fs

c.1375_1376fs

Surrounding Variants

1 paper

NM_001134407.3

p.F459L

c.1375T>C

2 papers

NM_001134407.3

p.F459S

c.1376T>C

1 paper

NM_001134407.3

p.F459L

c.1377C>G

1 paper

NM_001134407.3

p.F459L

c.1377C>A

1 paper

NM_001134407.3

p.F459delFs

c.1376delA

1 paper

NM_001134407.3

p.G458R

c.1372G>C

1 paper

NM_001134407.3

p.G458R

c.1372G>A

1 paper

NM_001134407.3

p.C460Y

c.1379G>A

2 papers

NM_001134407.3

p.C456*

c.1368C>A

1 paper

NM_001134407.3

p.C456F

c.1367G>T

7 papers

NM_001134407.3

p.C456Y

c.1367G>A

1 paper

NM_001134407.3

p.D462H

c.1384G>C