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

20 papers

NM_001134407.3

p.F652V

c.1954T>G

Surrounding Variants

1 paper

NM_001134407.3

p.F652L

c.1954T>C

2 papers

NM_001134407.3

p.F652C

c.1955T>G

1 paper

NM_001134407.3

p.A651V

c.1952C>T

1 paper

NM_001134407.3

p.F652L

c.1956C>G

1 paper

NM_001134407.3

p.F652L

c.1956C>A

4 papers

NM_001134407.3

p.A651T

c.1951G>A

8 papers

NM_001134407.3

p.M653V

c.1957A>G

17 papers

NM_001134407.3

p.M653I

c.1959G>T

17 papers

NM_001134407.3

p.M653I

c.1959G>C

19 papers

NM_001134407.3

p.M653I

c.1959G>A

1 paper

NM_001134407.3

p.A650G

c.1949C>G

3 papers

NM_001134407.3

p.A650S

c.1948G>T