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.G713S

c.2137G>A

Surrounding Variants

1 paper

NM_000834.5

p.G713C

c.2137G>T

1 paper

NM_000834.5

p.G713R

c.2137G>C

1 paper

NM_000834.5

p.G713V

c.2138G>T

1 paper

NM_000834.5

p.G713A

c.2138G>C

3 papers

NM_000834.5

p.V714I

c.2140G>A

1 paper

NM_000834.5

p.V714A

c.2141T>C

2 papers

NM_000834.5

p.V714E

c.2141T>A

8 papers

NM_000834.5

p.Q711*

c.2131C>T

1 paper

NM_000834.5

p.D715G

c.2144A>G

4 papers

NM_000834.5

p.D716N

c.2146G>A

2 papers

NM_000834.5

p.F709V

c.2125T>G

1 paper

NM_000834.5

p.A717V

c.2150C>T