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.T1067I

c.3200C>T

Surrounding Variants

1 paper

NM_000834.5

p.V1068I

c.3202G>A

1 paper

NM_000834.5

p.I1063_T1065del3

c.3187_3194del9

1 paper

NM_000834.5

p.Y1070*

c.3210T>G

1 paper

NM_000834.5

p.Y1070*

c.3210T>A

1 paper

NM_000834.5

p.D1059G

c.3176A>G

1 paper

NM_000834.5

p.D1059fs

c.3175_3176fs

1 paper

NM_000834.5

p.S1058insFs

c.3173_3174ins4

1 paper

NM_000834.5

p.S1058fs

c.3172_3173fs

1 paper

NM_000834.5

p.R1057insFs

c.3170_3171ins4

1 paper

NM_000834.5

p.R1057H

c.3170G>A

1 paper

NM_000834.5

p.A1078T

c.3232G>A

1 paper

NM_000834.5

p.I1056insFs

c.3167_3168ins4