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

3 papers

NM_000834.5

p.R693G

c.2077A>G

Surrounding Variants

4 papers

NM_000834.5

p.R693T

c.2078G>C

7 papers

NM_000834.5

p.R693S

c.2079A>T

7 papers

NM_000834.5

p.R693S

c.2079A>C

1 paper

NM_000834.5

p.N694H

c.2080A>C

2 papers

NM_000834.5

p.N694S

c.2081A>G

6 papers

NM_000834.5

p.T691I

c.2072C>T

1 paper

NM_000834.5

p.T691R

c.2072C>G

1 paper

NM_000834.5

p.I695fs

c.2083_2084fs

6 papers

NM_000834.5

p.T691A

c.2071A>G

1 paper

NM_000834.5

p.I695V

c.2083A>G

5 papers

NM_000834.5

p.I695S

c.2084T>G

8 papers

NM_000834.5

p.I695T

c.2084T>C