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

2 papers

NM_000834.5

p.P595A

c.1783C>G

Surrounding Variants

1 paper

NM_000834.5

p.P595T

c.1783C>A

1 paper

NM_000834.5

p.E594Q

c.1780G>C

1 paper

NM_000834.5

p.P595delFs

c.1785delA

2 papers

NM_000834.5

p.E594Splc

c.1781-2A>G

1 paper

NM_000834.5

p.G597E

c.1790G>A

1 paper

NM_000834.5

p.S599C

c.1796C>G

3 papers

NM_000834.5

p.I602I

c.1806C>T

1 paper

NM_000834.5

p.G603R

c.1807G>C

2 papers

NM_000834.5

p.G603S

c.1807G>A

1 paper

NM_000834.5

p.K604R

c.1811A>G

1 paper

NM_000834.5

p.W607G

c.1819T>G

4 papers

NM_000834.5

p.W607L

c.1820G>T