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.V510M

c.1528G>A

Surrounding Variants

2 papers

NM_000834.5

p.A509T

c.1525G>A

3 papers

NM_000834.5

p.S512A

c.1534T>G

1 paper

NM_000834.5

p.T514S

c.1540A>T

8 papers

NM_000834.5

p.T514A

c.1540A>G

1 paper

NM_000834.5

p.T514S

c.1541C>G

1 paper

NM_000834.5

p.T514N

c.1541C>A

1 paper

NM_000834.5

p.R505K

c.1514G>A

2 papers

NM_000834.5

p.M503I

c.1509G>T

2 papers

NM_000834.5

p.M503I

c.1509G>C

2 papers

NM_000834.5

p.M503I

c.1509G>A

1 paper

NM_000834.5

p.N516I

c.1547A>T

6 papers

NM_000834.5

p.N516S

c.1547A>G