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.R692T

c.2075G>C

Surrounding Variants

1 paper

NM_001134407.3

p.R692G

c.2074A>G

2 papers

NM_001134407.3

p.N693D

c.2077A>G

1 paper

NM_001134407.3

p.N693T

c.2078A>C

1 paper

NM_001134407.3

p.E691A

c.2072A>C

1 paper

NM_001134407.3

p.E691K

c.2071G>A

1 paper

NM_001134407.3

p.N693delFs

c.2078delT

1 paper

NM_001134407.3

p.T690T

c.2070G>A

1 paper

NM_001134407.3

p.I694L

c.2080A>C

21 papers

NM_001134407.3

p.I694T

c.2081T>C

8 papers

NM_001134407.3

p.T690M

c.2069C>T

1 paper

NM_001134407.3

p.T690K

c.2069C>A

4 papers

NM_001134407.3

p.T690A

c.2068A>G