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.F728delFs

c.2184delG

Surrounding Variants

1 paper

NM_001134407.3

p.Y730F

c.2189A>T

3 papers

NM_001134407.3

p.Y730C

c.2189A>G

3 papers

NM_001134407.3

p.A727V

c.2180C>T

1 paper

NM_001134407.3

p.Y730Y

c.2190C>T

1 paper

NM_001134407.3

p.A727S

c.2179G>T

38 papers

NM_001134407.3

p.D731N

c.2191G>A

25 papers

NM_001134407.3

p.A727T

c.2179G>A

2 papers

NM_001134407.3

p.D731A

c.2192A>C

3 papers

NM_001134407.3

p.D731E

c.2193T>G

3 papers

NM_001134407.3

p.D731E

c.2193T>A

1 paper

NM_001134407.3

p.A732S

c.2194G>T

1 paper

NM_001134407.3

p.D726N

c.2176G>A