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.V523A

c.1568T>C

Surrounding Variants

6 papers

NM_000834.5

p.D524N

c.1570G>A

1 paper

NM_000834.5

p.E521del1

c.1561_1563delCTC

1 paper

NM_000834.5

p.D524G

c.1571A>G

1 paper

NM_000834.5

p.E521insFs

c.1562_1563dupAG

1 paper

NM_000834.5

p.V522fs

c.1564_1565fs

6 papers

NM_000834.5

p.F525V

c.1573T>G

5 papers

NM_000834.5

p.S526P

c.1576T>C

1 paper

NM_000834.5

p.S520L

c.1559C>T

1 paper

NM_000834.5

p.S526S

c.1578T>A

1 paper

NM_000834.5

p.S526delFs

c.1577delG

1 paper

NM_000834.5

p.R519L

c.1556G>T

6 papers

NM_000834.5

p.R519Q

c.1556G>A