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.H937R

c.2810A>G

Surrounding Variants

3 papers

NM_000834.5

p.R938H

c.2813G>A

4 papers

NM_000834.5

p.D933N

c.2797G>A

1 paper

NM_000834.5

p.T942M

c.2825C>T

1 paper

NM_000834.5

p.T942delFs

c.2825delG

1 paper

NM_000834.5

p.V931V

c.2793C>T

2 papers

NM_000834.5

p.V931I

c.2791G>A

1 paper

NM_000834.5

p.D945_C946insFs

c.2834_2837dup4

1 paper

NM_000834.5

p.C946*

c.2838C>A

2 papers

NM_000834.5

p.R927Q

c.2780G>A

6 papers

NM_000834.5

p.R926*

c.2776C>T

1 paper

NM_000834.5

p.R926G

c.2776C>G

2 papers

NM_000834.5

p.Y949H

c.2845T>C