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.A53T

c.157G>A

Surrounding Variants

1 paper

NM_000834.5

p.H54L

c.161A>T

1 paper

NM_000834.5

p.E55K

c.163G>A

1 paper

NM_000834.5

p.I50N

c.149T>A

1 paper

NM_000834.5

p.D57V

c.170A>T

1 paper

NM_000834.5

p.D58Y

c.172G>T

2 papers

NM_000834.5

p.E47G

c.140A>G

1 paper

NM_000834.5

p.E47Q

c.139G>C

1 paper

NM_000834.5

p.D46N

c.136G>A

2 papers

NM_000834.5

p.H60Y

c.178C>T

1 paper

NM_000834.5

p.V42A

c.125T>C

1 paper

NM_000834.5

p.V42L

c.124G>T

1 paper

NM_000834.5

p.V42L

c.124G>C