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.F416L

c.1248T>G

Surrounding Variants

2 papers

NM_000834.5

p.F416L

c.1248T>A

2 papers

NM_000834.5

p.F416S

c.1247T>C

2 papers

NM_000834.5

p.V417F

c.1249G>T

1 paper

NM_000834.5

p.V417L

c.1249G>C

2 papers

NM_000834.5

p.F416L

c.1246T>C

1 paper

NM_000834.5

p.V417insFs

c.1251dupC

1 paper

NM_000834.5

p.I418T

c.1253T>C

1 paper

NM_000834.5

p.I418fs

c.1252_1253fs

2 papers

NM_000834.5

p.A414T

c.1240G>A

1 paper

NM_000834.5

p.E413D

c.1239G>T

1 paper

NM_000834.5

p.E413D

c.1239G>C

26 papers

NM_000834.5

p.E413G

c.1238A>G