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.G826A

c.2477G>C

Surrounding Variants

6 papers

NM_000834.5

p.G826E

c.2477G>A

2 papers

NM_000834.5

p.G826W

c.2476G>T

3 papers

NM_000834.5

p.A827T

c.2479G>A

1 paper

NM_000834.5

p.A827E

c.2480C>A

19 papers

NM_000834.5

p.L825V

c.2473T>G

1 paper

NM_000834.5

p.L825fs

c.2473_2474fs

1 paper

NM_000834.5

p.M824I

c.2472G>T

1 paper

NM_000834.5

p.M824I

c.2472G>C

1 paper

NM_000834.5

p.M824I

c.2472G>A

8 papers

NM_000834.5

p.M824R

c.2471T>G

1 paper

NM_000834.5

p.M824K

c.2471T>A

3 papers

NM_000834.5

p.M824V

c.2470A>G