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.F1406L

c.4216T>C

Surrounding Variants

1 paper

NM_000834.5

p.F1406F

c.4218C>T

1 paper

NM_000834.5

p.R1407R

c.4221G>A

1 paper

NM_000834.5

p.S1403F

c.4208C>T

1 paper

NM_000834.5

p.T1410P

c.4228A>C

1 paper

NM_000834.5

p.T1410M

c.4229C>T

1 paper

NM_000834.5

p.T1410R

c.4229C>G

1 paper

NM_000834.5

p.V1411G

c.4232T>G

1 paper

NM_000834.5

p.A1412fs

c.4234_4235fs

12 papers

NM_000834.5

p.H1399H

c.4197T>C

1 paper

NM_000834.5

p.A1412V

c.4235C>T

1 paper

NM_000834.5

p.A1412E

c.4235C>A

1 paper

NM_000834.5

p.A1412delFs

c.4235delG