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.A1344V

c.4031C>T

Surrounding Variants

1 paper

NM_000834.5

p.M1342T

c.4025T>C

1 paper

NM_000834.5

p.S1347R

c.4039A>C

1 paper

NM_000834.5

p.S1347R

c.4041C>G

1 paper

NM_000834.5

p.S1347R

c.4041C>A

2 papers

NM_000834.5

p.F1340V

c.4018T>G

1 paper

NM_000834.5

p.M1339I

c.4017G>T

1 paper

NM_000834.5

p.M1339fs

c.4015_4016fs

1 paper

NM_000834.5

p.M1339I

c.4017G>C

1 paper

NM_000834.5

p.M1339I

c.4017G>A

1 paper

NM_000834.5

p.M1339delFs

c.4015_4016delAT

3 papers

NM_000834.5

p.M1339V

c.4015A>G

1 paper

NM_000834.5

p.A1350V

c.4049C>T