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.R1241Q

c.3722G>A

Surrounding Variants

1 paper

NM_000834.5

p.C1239C

c.3717C>T

1 paper

NM_000834.5

p.A1244D

c.3731C>A

1 paper

NM_000834.5

p.Q1237*

c.3709C>T

1 paper

NM_000834.5

p.R1236fs

c.3706_3707fs

1 paper

NM_000834.5

p.S1234_G1235insFs

c.3702_3705dup4

1 paper

NM_000834.5

p.G1235S

c.3703G>A

1 paper

NM_000834.5

p.G1249C

c.3745G>T

1 paper

NM_000834.5

p.G1249D

c.3746G>A

1 paper

NM_000834.5

p.Y1252D

c.3754T>G

1 paper

NM_000834.5

p.Y1252F

c.3755A>T

1 paper

NM_000834.5

p.V1229M

c.3685G>A

4 papers

NM_000834.5

p.T1228M

c.3683C>T