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.R1099fs

c.3295_3296fs

Surrounding Variants

1 paper

NM_000834.5

p.R1099C

c.3295C>T

2 papers

NM_000834.5

p.R1099H

c.3296G>A

5 papers

NM_000834.5

p.R1099delFs

c.3295delG

1 paper

NM_000834.5

p.R1099fs

c.3295_3296fs

1 paper

NM_000834.5

p.E1101*

c.3301G>T

1 paper

NM_000834.5

p.A1096S

c.3286G>T

1 paper

NM_000834.5

p.A1096T

c.3286G>A

1 paper

NM_000834.5

p.S1095L

c.3284C>T

1 paper

NM_000834.5

p.E1104K

c.3310G>A

3 papers

NM_000834.5

p.P1093P

c.3279T>G

1 paper

NM_000834.5

p.R1092Q

c.3275G>A

1 paper

NM_000834.5

p.E1106K

c.3316G>A