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.D815N

c.2443G>A

Surrounding Variants

1 paper

NM_001134407.3

p.D815Y

c.2443G>T

2 papers

NM_001134407.3

p.D815H

c.2443G>C

15 papers

NM_001134407.3

p.I814T

c.2441T>C

2 papers

NM_001134407.3

p.D813E

c.2439C>G

2 papers

NM_001134407.3

p.D813E

c.2439C>A

1 paper

NM_001134407.3

p.D813_I814del2

c.2437_2441del6

2 papers

NM_001134407.3

p.N816N

c.2448C>T

1 paper

NM_001134407.3

p.D813N

c.2437G>A

27 papers

NM_001134407.3

p.M817V

c.2449A>G

3 papers

NM_001134407.3

p.M817R

c.2450T>G

10 papers

NM_001134407.3

p.M817T

c.2450T>C

2 papers

NM_001134407.3

p.L812Q

c.2435T>A