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.R846S

c.2536C>A

Surrounding Variants

7 papers

NM_001134407.3

p.R846C

c.2536C>T

3 papers

NM_001134407.3

p.R846H

c.2537G>A

2 papers

NM_001134407.3

p.L845V

c.2533C>G

2 papers

NM_001134407.3

p.F847S

c.2540T>C

1 paper

NM_001134407.3

p.K844N

c.2532G>T

1 paper

NM_001134407.3

p.F847L

c.2541C>G

1 paper

NM_001134407.3

p.K844Q

c.2530A>C

1 paper

NM_001134407.3

p.W843C

c.2529G>T

1 paper

NM_001134407.3

p.W843C

c.2529G>C

2 papers

NM_001134407.3

p.W843*

c.2529G>A

1 paper

NM_001134407.3

p.C848Y

c.2543G>A

3 papers

NM_001134407.3

p.W843*

c.2528G>A