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

9 papers

NM_000834.5

p.G689C

c.2065G>T

Surrounding Variants

24 papers

NM_000834.5

p.G689S

c.2065G>A

2 papers

NM_000834.5

p.N688K

c.2064C>G

2 papers

NM_000834.5

p.N688K

c.2064C>A

3 papers

NM_000834.5

p.S690G

c.2068A>G

1 paper

NM_000834.5

p.S690I

c.2069G>T

1 paper

NM_000834.5

p.S690N

c.2069G>A

9 papers

NM_000834.5

p.P687L

c.2060C>T

9 papers

NM_000834.5

p.P687R

c.2060C>G

1 paper

NM_000834.5

p.P687H

c.2060C>A

6 papers

NM_000834.5

p.T691A

c.2071A>G

6 papers

NM_000834.5

p.T691I

c.2072C>T

1 paper

NM_000834.5

p.T691R

c.2072C>G