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.P3S

c.7C>T

Surrounding Variants

1 paper

NM_000834.5

p.P3H

c.8C>A

1 paper

NM_000834.5

p.K2T

c.5A>C

1 paper

NM_000834.5

p.M1I

c.3G>C

1 paper

NM_000834.5

p.M1insFs

c.2_3insA

1 paper

NM_000834.5

p.M1R

c.2T>G

1 paper

NM_000834.5

p.M1T

c.2T>C

1 paper

NM_000834.5

p.M1K

c.2T>A

1 paper

NM_000834.5

p.R4S

c.12A>T

1 paper

NM_000834.5

p.M1V

c.1A>G

1 paper

NM_000834.5

p.A5V

c.14C>T

2 papers

NM_000834.5

p.A5A

c.15G>T

2 papers

NM_000834.5

p.A5A

c.15G>A