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.K976R

c.2927A>G

Surrounding Variants

2 papers

NM_000834.5

p.K976del1

c.2926_2927delCTT

2 papers

NM_000834.5

p.D977E

c.2931C>G

2 papers

NM_000834.5

p.D977E

c.2931C>A

1 paper

NM_000834.5

p.S978S

c.2934C>T

1 paper

NM_000834.5

p.N979I

c.2936A>T

1 paper

NM_000834.5

p.L973fs

c.2917_2918fs

1 paper

NM_000834.5

p.Q982R

c.2945A>G

1 paper

NM_000834.5

p.T969K

c.2906C>A

1 paper

NM_000834.5

p.H984Y

c.2950C>T

1 paper

NM_000834.5

p.E967Q

c.2899G>C

1 paper

NM_000834.5

p.H987R

c.2960A>G

1 paper

NM_000834.5

p.I963T

c.2888T>C