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.D855Y

c.2563G>T

Surrounding Variants

2 papers

NM_001134407.3

p.D855N

c.2563G>A

1 paper

NM_001134407.3

p.D855E

c.2565C>G

2 papers

NM_001134407.3

p.R856W

c.2566C>T

1 paper

NM_001134407.3

p.R856G

c.2566C>G

1 paper

NM_001134407.3

p.R856L

c.2567G>T

2 papers

NM_001134407.3

p.R856Q

c.2567G>A

1 paper

NM_001134407.3

p.C853S

c.2558G>C

1 paper

NM_001134407.3

p.D855_R856delFs

c.2564_2567del4

2 papers

NM_001134407.3

p.C853R

c.2557T>C

1 paper

NM_001134407.3

p.C853S

c.2557T>A

1 paper

NM_001134407.3

p.P857A

c.2569C>G

3 papers

NM_001134407.3

p.G858R

c.2572G>C