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.G1370R

c.4108G>C

Surrounding Variants

1 paper

NM_000834.5

p.G1370R

c.4108G>A

2 papers

NM_000834.5

p.G1369S

c.4105G>A

1 paper

NM_000834.5

p.Y1371C

c.4112A>G

1 paper

NM_000834.5

p.G1368C

c.4102G>T

1 paper

NM_000834.5

p.G1368S

c.4102G>A

1 paper

NM_000834.5

p.N1366del1

c.4096_4097delGTT

1 paper

NM_000834.5

p.N1366_P1367insA

c.4096_4100ins3

1 paper

NM_000834.5

p.H1364del1

c.4090_4091delGTG

1 paper

NM_000834.5

p.H1361_H1362del2

c.4081_4085del6

1 paper

NM_000834.5

p.S1376delFs

c.4128delC

1 paper

NM_000834.5

p.H1362Q

c.4086C>G

1 paper

NM_000834.5

p.H1362Q

c.4086C>A