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.R773K

c.2318G>A

Surrounding Variants

1 paper

NM_001134407.3

p.R773T

c.2318G>C

1 paper

NM_001134407.3

p.Q774H

c.2322G>T

19 papers

NM_001134407.3

p.K772E

c.2314A>G

1 paper

NM_001134407.3

p.W771*

c.2313G>A

1 paper

NM_001134407.3

p.I775T

c.2324T>C

3 papers

NM_001134407.3

p.I775M

c.2325C>G

1 paper

NM_001134407.3

p.P770P

c.2310T>A

5 papers

NM_001134407.3

p.D776Y

c.2326G>T

3 papers

NM_001134407.3

p.D776N

c.2326G>A

1 paper

NM_001134407.3

p.P770L

c.2309C>T

1 paper

NM_001134407.3

p.P770S

c.2308C>T

1 paper

NM_001134407.3

p.D776E

c.2328C>A