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

Selected Variant

1 paper

NM_000834.5

p.G1188G

c.3564C>G

Surrounding Variants

1 paper

NM_000834.5

p.G1188S

c.3562G>A

1 paper

NM_000834.5

p.H1187Q

c.3561C>G

1 paper

NM_000834.5

p.H1187Q

c.3561C>A

1 paper

NM_000834.5

p.G1182R

c.3544G>C

1 paper

NM_000834.5

p.G1182R

c.3544G>A

1 paper

NM_000834.5

p.H1181Q

c.3543C>G

1 paper

NM_000834.5

p.H1181Q

c.3543C>A

1 paper

NM_000834.5

p.H1181Y

c.3541C>T

1 paper

NM_000834.5

p.I1179F

c.3535A>T

2 papers

NM_000834.5

p.H1178H

c.3534C>T

1 paper

NM_000834.5

p.K1199delFs

c.3596delT

1 paper

NM_000834.5

p.L1201V

c.3601C>G