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.Y389C

c.1166A>G

Surrounding Variants

1 paper

NM_000834.5

p.Y388D

c.1162T>G

1 paper

NM_000834.5

p.R393*

c.1177C>T

1 paper

NM_000834.5

p.R393Q

c.1178G>A

1 paper

NM_000834.5

p.Q385*

c.1153C>T

1 paper

NM_000834.5

p.S383A

c.1147T>G

2 papers

NM_000834.5

p.S383T

c.1147T>A

1 paper

NM_000834.5

p.D381E

c.1143C>G

1 paper

NM_000834.5

p.D381E

c.1143C>A

1 paper

NM_000834.5

p.W379*

c.1137G>A

1 paper

NM_000834.5

p.W379*

c.1136G>A

1 paper

NM_000834.5

p.K378R

c.1133A>G

1 paper

NM_000834.5

p.E402K

c.1204G>A