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

2 papers

NM_001134407.3

p.H674L

c.2021A>T

Surrounding Variants

1 paper

NM_001134407.3

p.H674Q

c.2022T>G

1 paper

NM_001134407.3

p.H674Q

c.2022T>A

1 paper

NM_001134407.3

p.R672G

c.2014A>G

1 paper

NM_001134407.3

p.Q671H

c.2013G>T

1 paper

NM_001134407.3

p.Q671H

c.2013G>C

1 paper

NM_001134407.3

p.Q671E

c.2011C>G

3 papers

NM_001134407.3

p.F670fs

c.2008_2009fs

1 paper

NM_001134407.3

p.P678L

c.2033C>T

1 paper

NM_001134407.3

p.F670fs

c.2008_2009fs

2 papers

NM_001134407.3

p.K669_F670Splc

c.2008-1G>T

1 paper

NM_001134407.3

p.K669_F670Splc

c.2008-1G>A

16 papers

NM_001134407.3

p.R681*

c.2041C>T