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.P547del1

c.1639_1641delAGG

Surrounding Variants

1 paper

NM_000834.5

p.S548A

c.1642T>G

1 paper

NM_000834.5

p.S548F

c.1643C>T

2 papers

NM_000834.5

p.P547A

c.1639C>G

4 papers

NM_000834.5

p.A549V

c.1646C>T

1 paper

NM_000834.5

p.S546A

c.1636T>G

4 papers

NM_000834.5

p.F550S

c.1649T>C

1 paper

NM_000834.5

p.V545A

c.1634T>C

4 papers

NM_000834.5

p.L551S

c.1652T>C

1 paper

NM_000834.5

p.G543V

c.1628G>T

1 paper

NM_000834.5

p.G543E

c.1628G>A

8 papers

NM_000834.5

p.G543R

c.1627G>C

8 papers

NM_000834.5

p.G543R

c.1627G>A