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.E788K

c.2362G>A

Surrounding Variants

1 paper

NM_000834.5

p.E788D

c.2364G>T

1 paper

NM_000834.5

p.E788D

c.2364G>C

1 paper

NM_000834.5

p.E788E

c.2364G>A

1 paper

NM_000834.5

p.M789T

c.2366T>C

1 paper

NM_000834.5

p.M789K

c.2366T>A

7 papers

NM_000834.5

p.G787Splc

c.2360-2A>G

1 paper

NM_000834.5

p.E791V

c.2372A>T

1 paper

NM_000834.5

p.E793K

c.2377G>A

2 papers

NM_000834.5

p.A794T

c.2380G>A

3 papers

NM_000834.5

p.L797F

c.2389C>T

2 papers

NM_000834.5

p.T798S

c.2392A>T

2 papers

NM_000834.5

p.T798P

c.2392A>C