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.E517K

c.1549G>A

Surrounding Variants

1 paper

NM_000834.5

p.N516I

c.1547A>T

6 papers

NM_000834.5

p.N516S

c.1547A>G

1 paper

NM_000834.5

p.E518K

c.1552G>A

1 paper

NM_000834.5

p.E518G

c.1553A>G

1 paper

NM_000834.5

p.E518A

c.1553A>C

6 papers

NM_000834.5

p.R519*

c.1555C>T

2 papers

NM_000834.5

p.R519G

c.1555C>G

1 paper

NM_000834.5

p.R519L

c.1556G>T

6 papers

NM_000834.5

p.R519Q

c.1556G>A

1 paper

NM_000834.5

p.T514S

c.1541C>G

1 paper

NM_000834.5

p.T514N

c.1541C>A

1 paper

NM_000834.5

p.T514S

c.1540A>T