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

36 papers

NM_000834.5

p.N615I

c.1844A>T

Surrounding Variants

1 paper

NM_000834.5

p.N615S

c.1844A>G

20 papers

NM_000834.5

p.N615K

c.1845C>G

20 papers

NM_000834.5

p.N615K

c.1845C>A

1 paper

NM_000834.5

p.N615Y

c.1843A>T

1 paper

NM_000834.5

p.N615H

c.1843A>C

2 papers

NM_000834.5

p.N616I

c.1847A>T

4 papers

NM_000834.5

p.N616S

c.1847A>G

12 papers

NM_000834.5

p.N616K

c.1848C>G

12 papers

NM_000834.5

p.N616K

c.1848C>A

1 paper

NM_000834.5

p.S617T

c.1849T>A

1 paper

NM_000834.5

p.V613delFs

c.1837delC

2 papers

NM_000834.5

p.S617C

c.1850C>G