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

45 papers

NM_000834.5

p.T888T

c.2664C>T

Surrounding Variants

2 papers

NM_000834.5

p.A889T

c.2665G>A

1 paper

NM_000834.5

p.T888I

c.2663C>T

1 paper

NM_000834.5

p.T888S

c.2663C>G

1 paper

NM_000834.5

p.T888S

c.2662A>T

2 papers

NM_000834.5

p.T888A

c.2662A>G

1 paper

NM_000834.5

p.M884I

c.2652G>T

1 paper

NM_000834.5

p.M884I

c.2652G>C

1 paper

NM_000834.5

p.M884I

c.2652G>A

1 paper

NM_000834.5

p.M884L

c.2650A>T

1 paper

NM_000834.5

p.M884L

c.2650A>C

2 papers

NM_000834.5

p.V883A

c.2648T>C

1 paper

NM_000834.5

p.T894S

c.2680A>T