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

3 papers

NM_001134407.3

p.R695R

c.2085G>C

Surrounding Variants

11 papers

NM_001134407.3

p.R695Q

c.2084G>A

2 papers

NM_001134407.3

p.R695W

c.2083C>T

21 papers

NM_001134407.3

p.I694T

c.2081T>C

1 paper

NM_001134407.3

p.N697T

c.2090A>C

1 paper

NM_001134407.3

p.I694L

c.2080A>C

1 paper

NM_001134407.3

p.N697K

c.2091C>G

1 paper

NM_001134407.3

p.N693delFs

c.2078delT

1 paper

NM_001134407.3

p.N693T

c.2078A>C

2 papers

NM_001134407.3

p.Y698C

c.2093A>G

2 papers

NM_001134407.3

p.N693D

c.2077A>G

2 papers

NM_001134407.3

p.Y698*

c.2094T>G

1 paper

NM_001134407.3

p.Y698*

c.2094T>A