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.P1389S

c.4165C>T

Surrounding Variants

2 papers

NM_000834.5

p.F1387L

c.4161C>G

1 paper

NM_000834.5

p.F1387L

c.4161C>A

1 paper

NM_000834.5

p.T1390fs

c.4168_4169fs

1 paper

NM_000834.5

p.T1390delFs

c.4168_4169delGT

1 paper

NM_000834.5

p.F1387L

c.4159T>C

1 paper

NM_000834.5

p.F1391S

c.4172T>C

1 paper

NM_000834.5

p.D1393D

c.4179C>T

1 paper

NM_000834.5

p.D1394D

c.4182C>T

1 paper

NM_000834.5

p.R1381Q

c.4142G>A

1 paper

NM_000834.5

p.L1398L

c.4194C>T

1 paper

NM_000834.5

p.H1399R

c.4196A>G

12 papers

NM_000834.5

p.H1399H

c.4197T>C