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.G459R

c.1375G>C

Surrounding Variants

1 paper

NM_000834.5

p.G459R

c.1375G>A

2 papers

NM_000834.5

p.G459E

c.1376G>A

1 paper

NM_000834.5

p.F460V

c.1378T>G

1 paper

NM_000834.5

p.K458*

c.1372A>T

25 papers

NM_000834.5

p.C461F

c.1382G>T

2 papers

NM_000834.5

p.C461Y

c.1382G>A

1 paper

NM_000834.5

p.C456fs

c.1366_1367fs

2 papers

NM_000834.5

p.C456*

c.1368C>A

45 papers

NM_000834.5

p.C456Y

c.1367G>A

1 paper

NM_000834.5

p.C456insFs

c.1366_1367insA

1 paper

NM_000834.5

p.K454delFs

c.1361_1362delTT

1 paper

NM_000834.5

p.I462T

c.1385T>C