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.E1207K

c.3619G>A

Surrounding Variants

1 paper

NM_000834.5

p.R1209W

c.3625C>T

1 paper

NM_000834.5

p.R1209Q

c.3626G>A

1 paper

NM_000834.5

p.S1210Y

c.3629C>A

1 paper

NM_000834.5

p.S1210S

c.3630C>T

1 paper

NM_000834.5

p.L1201V

c.3601C>G

1 paper

NM_000834.5

p.N1213I

c.3638A>T

1 paper

NM_000834.5

p.K1199delFs

c.3596delT

1 paper

NM_000834.5

p.R1216C

c.3646C>T

1 paper

NM_000834.5

p.R1216L

c.3647G>T

2 papers

NM_000834.5

p.R1216H

c.3647G>A

1 paper

NM_000834.5

p.C1218S

c.3652T>A

1 paper

NM_000834.5

p.C1218S

c.3653G>C