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.L480fs

c.1438_1439fs

Surrounding Variants

1 paper

NM_000834.5

p.L480fs

c.1438_1439fs

1 paper

NM_000834.5

p.Y479*

c.1437C>G

1 paper

NM_000834.5

p.Y479*

c.1437C>A

1 paper

NM_000834.5

p.L480_V481insFs

c.1440_1443dup4

1 paper

NM_000834.5

p.T482fs

c.1444_1445fs

2 papers

NM_000834.5

p.L480_T482delFs

c.1439_1446del8

1 paper

NM_000834.5

p.D477Y

c.1429G>T

3 papers

NM_000834.5

p.G484D

c.1451G>A

2 papers

NM_000834.5

p.Y476C

c.1427A>G

1 paper

NM_000834.5

p.K485E

c.1453A>G

2 papers

NM_000834.5

p.H486Y

c.1456C>T

1 paper

NM_000834.5

p.H486L

c.1457A>T