Varaico: Literature-Extracted Genetic Variants

GRIN2B

834 papers

RefSeq Summary

This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel wh...

Pfam Domains

ANF_receptoraa 67–370UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 404–542UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 555–829UCSCLigand-gated ion channel

NMDAR2_Caa 840–1484UCSCN-methyl D-aspartate receptor 2B3 C-terminus

Gene Aliases

HGNC Name

glutamate ionotropic receptor NMDA type subunit 2B

HGNC Previous Symbol

NMDAR2B

Papers

RefSeq ID

Protein change

DNA change

1–12 of 1268 variants

45 papers

NM_000834.5

p.C456Y

c.1367G>A

45 papers

NM_000834.5

p.T888T

c.2664C>T

36 papers

NM_000834.5

p.N615I

c.1844A>T

36 papers

NM_000834.5

p.V618G

c.1853T>G

33 papers

NM_000834.5

p.R540H

c.1619G>A

29 papers

NM_000834.5

p.R696H

c.2087G>A

29 papers

NM_000834.5

p.G820A

c.2459G>C

28 papers

NM_000834.5

p.P122P

c.366C>G

26 papers

NM_000834.5

p.E413G

c.1238A>G

25 papers

NM_000834.5

p.C461F

c.1382G>T

24 papers

NM_000834.5

p.R682C

c.2044C>T

24 papers

NM_000834.5

p.G689S

c.2065G>A