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.I864fs

c.2590_2591fs

Surrounding Variants

1 paper

NM_000834.5

p.I864fs

c.2590_2591fs

3 papers

NM_000834.5

p.S863delFs

c.2589delG

1 paper

NM_000834.5

p.C854fs

c.2560_2561fs

2 papers

NM_000834.5

p.C854F

c.2561G>T

1 paper

NM_000834.5

p.C854delFs

c.2560delA

1 paper

NM_000834.5

p.V853fs

c.2557_2558fs

1 paper

NM_000834.5

p.V853I

c.2557G>A

1 paper

NM_000834.5

p.G852delFs

c.2555delC

1 paper

NM_000834.5

p.G852A

c.2555G>C

1 paper

NM_000834.5

p.F850S

c.2549T>C

1 paper

NM_000834.5

p.H848R

c.2543A>G

1 paper

NM_000834.5

p.R847Q

c.2540G>A