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.C745W

c.2235C>G

Surrounding Variants

1 paper

NM_001134407.3

p.G744G

c.2232C>T

1 paper

NM_001134407.3

p.G744V

c.2231G>T

1 paper

NM_001134407.3

p.G744C

c.2230G>T

1 paper

NM_001134407.3

p.E743D

c.2229A>C

1 paper

NM_001134407.3

p.E743Q

c.2227G>C

1 paper

NM_001134407.3

p.E743K

c.2227G>A

1 paper

NM_001134407.3

p.D742E

c.2226T>G

4 papers

NM_001134407.3

p.D742N

c.2224G>A

2 papers

NM_001134407.3

p.T749I

c.2246C>T

1 paper

NM_001134407.3

p.T749S

c.2246C>G

1 paper

NM_001134407.3

p.R741S

c.2223G>T

1 paper

NM_001134407.3

p.I750V

c.2248A>G