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

4 papers

NM_000834.5

p.G499R

c.1495G>A

Surrounding Variants

4 papers

NM_000834.5

p.G499R

c.1495G>C

3 papers

NM_000834.5

p.G499V

c.1496G>T

3 papers

NM_000834.5

p.G499E

c.1496G>A

1 paper

NM_000834.5

p.N495K

c.1485T>G

1 paper

NM_000834.5

p.N495K

c.1485T>A

2 papers

NM_000834.5

p.T493N

c.1478C>A

1 paper

NM_000834.5

p.K488M

c.1463A>T

1 paper

NM_000834.5

p.G487G

c.1461G>A

1 paper

NM_000834.5

p.G487R

c.1459G>C

1 paper

NM_000834.5

p.G487R

c.1459G>A

2 papers

NM_000834.5

p.H486Q

c.1458T>G

2 papers

NM_000834.5

p.H486Q

c.1458T>A