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.V821L

c.2461G>C

Surrounding Variants

7 papers

NM_000834.5

p.V821F

c.2461G>T

10 papers

NM_000834.5

p.G820V

c.2459G>T

29 papers

NM_000834.5

p.G820A

c.2459G>C

17 papers

NM_000834.5

p.G820E

c.2459G>A

2 papers

NM_000834.5

p.G820R

c.2458G>C

2 papers

NM_000834.5

p.G820R

c.2458G>A

1 paper

NM_000834.5

p.A819V

c.2456C>T

6 papers

NM_000834.5

p.A819T

c.2455G>A

3 papers

NM_000834.5

p.M818R

c.2453T>G

14 papers

NM_000834.5

p.M818T

c.2453T>C

6 papers

NM_000834.5

p.M818L

c.2452A>T

3 papers

NM_000834.5

p.M824V

c.2470A>G