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.S421N

c.1262G>A

Surrounding Variants

1 paper

NM_000834.5

p.S421S

c.1263T>C

1 paper

NM_000834.5

p.I418fs

c.1252_1253fs

1 paper

NM_000834.5

p.I418T

c.1253T>C

1 paper

NM_000834.5

p.P424H

c.1271C>A

1 paper

NM_000834.5

p.V417insFs

c.1251dupC

1 paper

NM_000834.5

p.L425M

c.1273C>A

2 papers

NM_000834.5

p.V417F

c.1249G>T

1 paper

NM_000834.5

p.V417L

c.1249G>C

1 paper

NM_000834.5

p.L425L

c.1275G>A

2 papers

NM_000834.5

p.F416L

c.1248T>G

2 papers

NM_000834.5

p.F416L

c.1248T>A

1 paper

NM_000834.5

p.S426R

c.1276A>C