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.S628Y

c.1883C>A

Surrounding Variants

13 papers

NM_000834.5

p.S628F

c.1883C>T

3 papers

NM_000834.5

p.S628C

c.1883C>G

1 paper

NM_000834.5

p.T627insFs

c.1879dupA

1 paper

NM_000834.5

p.V632L

c.1894G>T

1 paper

NM_000834.5

p.V632L

c.1894G>C

1 paper

NM_000834.5

p.V632A

c.1895T>C

1 paper

NM_000834.5

p.S633A

c.1897T>G

1 paper

NM_000834.5

p.N622D

c.1864A>G

1 paper

NM_000834.5

p.Q621R

c.1862A>G

1 paper

NM_000834.5

p.W635C

c.1905G>T

1 paper

NM_000834.5

p.W635C

c.1905G>C

1 paper

NM_000834.5

p.Q621*

c.1861C>T