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.R1329G

c.3985C>G

Surrounding Variants

4 papers

NM_000834.5

p.M1331I

c.3993G>T

4 papers

NM_000834.5

p.M1331I

c.3993G>C

4 papers

NM_000834.5

p.M1331I

c.3993G>A

1 paper

NM_000834.5

p.D1332Y

c.3994G>T

1 paper

NM_000834.5

p.G1333R

c.3997G>C

1 paper

NM_000834.5

p.G1333R

c.3997G>A

1 paper

NM_000834.5

p.S1323C

c.3967A>T

1 paper

NM_000834.5

p.Y1336D

c.4006T>G

1 paper

NM_000834.5

p.V1322L

c.3964G>T

1 paper

NM_000834.5

p.V1322L

c.3964G>C

1 paper

NM_000834.5

p.V1322I

c.3964G>A

1 paper

NM_000834.5

p.S1321R

c.3963C>G