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

6 papers

NM_001134407.3

p.A818E

c.2453C>A

Surrounding Variants

9 papers

NM_001134407.3

p.A818V

c.2453C>T

4 papers

NM_001134407.3

p.A818T

c.2452G>A

2 papers

NM_001134407.3

p.M817I

c.2451G>T

1 paper

NM_001134407.3

p.G819C

c.2455G>T

1 paper

NM_001134407.3

p.M817I

c.2451G>C

1 paper

NM_001134407.3

p.M817I

c.2451G>A

3 papers

NM_001134407.3

p.M817R

c.2450T>G

10 papers

NM_001134407.3

p.M817T

c.2450T>C

1 paper

NM_001134407.3

p.G819V

c.2456G>T

3 papers

NM_001134407.3

p.G819A

c.2456G>C

1 paper

NM_001134407.3

p.G819delFs

c.2456delC

27 papers

NM_001134407.3

p.M817V

c.2449A>G