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

1–12 of 2452 variants

47 papers

NM_001134407.3

p.L812M

c.2434C>A

45 papers

NM_001134407.3

p.N615K

c.1845C>A

41 papers

NM_001134407.3

p.N615K

c.1845C>G

38 papers

NM_001134407.3

p.D731N

c.2191G>A

33 papers

NM_001134407.3

p.P552R

c.1655C>G

29 papers

NM_001134407.3

p.R518H

c.1553G>A

28 papers

NM_001134407.3

p.C436R

c.1306T>C

28 papers

NM_001134407.3

p.M705V

c.2113A>G

28 papers

NM_001134407.3

p.A716T

c.2146G>A

27 papers

NM_001134407.3

p.M817V

c.2449A>G

26 papers

NM_001134407.3

p.G483R

c.1447G>A

26 papers

NM_001134407.3

p.T531M

c.1592C>T