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.G1436A

c.4307G>C

Surrounding Variants

1 paper

NM_000834.5

p.A1437T

c.4309G>A

1 paper

NM_000834.5

p.A1437V

c.4310C>T

1 paper

NM_000834.5

p.A1437delins

c.4309_4310delinsAT

1 paper

NM_000834.5

p.V1438M

c.4312G>A

1 paper

NM_000834.5

p.P1439A

c.4315C>G

1 paper

NM_000834.5

p.P1439L

c.4316C>T

1 paper

NM_000834.5

p.A1440G

c.4319C>G

1 paper

NM_000834.5

p.R1441C

c.4321C>T

1 paper

NM_000834.5

p.V1431A

c.4292T>C

1 paper

NM_000834.5

p.R1441H

c.4322G>A

1 paper

NM_000834.5

p.F1442L

c.4324T>C

1 paper

NM_000834.5

p.V1430L

c.4288G>T