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.Q703E

c.2107C>G

Surrounding Variants

2 papers

NM_001134407.3

p.Q703*

c.2107C>T

1 paper

NM_001134407.3

p.H702Y

c.2104C>T

1 paper

NM_001134407.3

p.M701I

c.2103G>T

1 paper

NM_001134407.3

p.M701I

c.2103G>C

1 paper

NM_001134407.3

p.Y704C

c.2111A>G

28 papers

NM_001134407.3

p.M705V

c.2113A>G

1 paper

NM_001134407.3

p.M701V

c.2101A>G

3 papers

NM_001134407.3

p.Y700*

c.2100C>G

2 papers

NM_001134407.3

p.Y700*

c.2100C>A

1 paper

NM_001134407.3

p.M705I

c.2115G>C

1 paper

NM_001134407.3

p.P699insFs

c.2096dupC

1 paper

NM_001134407.3

p.Y700N

c.2098T>A