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.G1002_L1003insFs

c.3006_3009dup4

Surrounding Variants

3 papers

NM_000834.5

p.Y1004*

c.3012C>G

1 paper

NM_000834.5

p.Y1004fs

c.3010_3011fs

3 papers

NM_000834.5

p.Y1004*

c.3012C>A

1 paper

NM_000834.5

p.G1002V

c.3005G>T

1 paper

NM_000834.5

p.G1002R

c.3004G>C

1 paper

NM_000834.5

p.G1002R

c.3004G>A

1 paper

NM_000834.5

p.P1010S

c.3028C>T

2 papers

NM_000834.5

p.F1011L

c.3031T>C

2 papers

NM_000834.5

p.F1011L

c.3033C>G

2 papers

NM_000834.5

p.F1011L

c.3033C>A

1 paper

NM_000834.5

p.G995G

c.2985C>T

1 paper

NM_000834.5

p.G995D

c.2984G>A