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.I836V

c.2506A>G

Surrounding Variants

1 paper

NM_001134407.3

p.I836L

c.2506A>C

1 paper

NM_001134407.3

p.I836S

c.2507T>G

1 paper

NM_001134407.3

p.I836T

c.2507T>C

1 paper

NM_001134407.3

p.I836N

c.2507T>A

2 papers

NM_001134407.3

p.F835C

c.2504T>G

1 paper

NM_001134407.3

p.W837*

c.2510G>A

1 paper

NM_001134407.3

p.W837*

c.2511G>A

1 paper

NM_001134407.3

p.T834I

c.2501C>T

2 papers

NM_001134407.3

p.E838K

c.2512G>A

1 paper

NM_001134407.3

p.F835_W837del0

c.2503_2511del9

1 paper

NM_001134407.3

p.T834P

c.2500A>C

1 paper

NM_001134407.3

p.H839Y

c.2515C>T