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

8 papers

NM_001134407.3

p.N648S

c.1943A>G

Surrounding Variants

14 papers

NM_001134407.3

p.L649V

c.1945C>G

3 papers

NM_001134407.3

p.L649P

c.1946T>C

2 papers

NM_001134407.3

p.L649delins

c.1946_1947delinsCT

3 papers

NM_001134407.3

p.A650S

c.1948G>T

1 paper

NM_001134407.3

p.A650G

c.1949C>G

1 paper

NM_001134407.3

p.T646R

c.1937C>G

1 paper

NM_001134407.3

p.T646K

c.1937C>A

7 papers

NM_001134407.3

p.T646A

c.1936A>G

4 papers

NM_001134407.3

p.A651T

c.1951G>A

1 paper

NM_001134407.3

p.A651V

c.1952C>T

1 paper

NM_001134407.3

p.Y645C

c.1934A>G

20 papers

NM_001134407.3

p.F652V

c.1954T>G