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.C801Y

c.2402G>A

Surrounding Variants

1 paper

NM_000834.5

p.C801S

c.2402G>C

1 paper

NM_000834.5

p.C801S

c.2401T>A

1 paper

NM_000834.5

p.H802Y

c.2404C>T

4 papers

NM_000834.5

p.G799S

c.2395G>A

1 paper

NM_000834.5

p.E804K

c.2410G>A

2 papers

NM_000834.5

p.T798S

c.2393C>G

1 paper

NM_000834.5

p.E804G

c.2411A>G

1 paper

NM_000834.5

p.T798_E804insFs

c.2394_2410dup17

2 papers

NM_000834.5

p.T798S

c.2392A>T

2 papers

NM_000834.5

p.T798P

c.2392A>C

2 papers

NM_000834.5

p.L795_L797delFs

c.2384_2391del8

1 paper

NM_000834.5

p.H802_K805del0

c.2406_2414del9