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.P415T

c.1243C>A

Surrounding Variants

2 papers

NM_001134407.3

p.P415fs

c.1243_1244fs

1 paper

NM_001134407.3

p.P415insFs

c.1244dupC

1 paper

NM_001134407.3

p.P415delFs

c.1244delG

1 paper

NM_001134407.3

p.F416fs

c.1246_1247fs

2 papers

NM_001134407.3

p.E413D

c.1239G>T

1 paper

NM_001134407.3

p.E413fs

c.1237_1238fs

2 papers

NM_001134407.3

p.E413D

c.1239G>C

5 papers

NM_001134407.3

p.E413G

c.1238A>G

2 papers

NM_001134407.3

p.E413A

c.1238A>C

1 paper

NM_001134407.3

p.V417F

c.1249G>T

1 paper

NM_001134407.3

p.E413Q

c.1237G>C

3 papers

NM_001134407.3

p.V417I

c.1249G>A