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.D814N

c.2440G>A

Surrounding Variants

1 paper

NM_000834.5

p.D814A

c.2441A>C

3 papers

NM_000834.5

p.L813P

c.2438T>C

5 papers

NM_000834.5

p.L813V

c.2437C>G

1 paper

NM_000834.5

p.L813M

c.2437C>A

1 paper

NM_000834.5

p.L813_D814del2

c.2437_2441del6

2 papers

NM_000834.5

p.I815T

c.2444T>C

1 paper

NM_000834.5

p.Q812*

c.2434C>T

3 papers

NM_000834.5

p.Q812K

c.2434C>A

3 papers

NM_000834.5

p.D816A

c.2447A>C

1 paper

NM_000834.5

p.I815_D816del1

c.2444_2446delCAA

1 paper

NM_000834.5

p.D816D

c.2448C>T

1 paper

NM_000834.5

p.D816E

c.2448C>G