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.W635C

c.1905G>C

Surrounding Variants

1 paper

NM_000834.5

p.W635C

c.1905G>T

13 papers

NM_000834.5

p.A636P

c.1906G>C

1 paper

NM_000834.5

p.A636T

c.1906G>A

7 papers

NM_000834.5

p.A636V

c.1907C>T

1 paper

NM_000834.5

p.S633A

c.1897T>G

1 paper

NM_000834.5

p.V632A

c.1895T>C

3 papers

NM_000834.5

p.A639S

c.1915G>T

1 paper

NM_000834.5

p.V632L

c.1894G>T

1 paper

NM_000834.5

p.V632L

c.1894G>C

13 papers

NM_000834.5

p.A639V

c.1916C>T

1 paper

NM_000834.5

p.I641F

c.1921A>T

2 papers

NM_000834.5

p.I641V

c.1921A>G