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.R1115G

c.3343C>G

Surrounding Variants

1 paper

NM_000834.5

p.R1115S

c.3343C>A

1 paper

NM_000834.5

p.P1114S

c.3340C>T

2 papers

NM_000834.5

p.P1113L

c.3338C>T

1 paper

NM_000834.5

p.R1112Q

c.3335G>A

4 papers

NM_000834.5

p.R1111H

c.3332G>A

1 paper

NM_000834.5

p.R1110C

c.3328C>T

1 paper

NM_000834.5

p.A1108T

c.3322G>A

1 paper

NM_000834.5

p.Y1122C

c.3365A>G

1 paper

NM_000834.5

p.F1123L

c.3367T>C

1 paper

NM_000834.5

p.L1107M

c.3319C>A

1 paper

NM_000834.5

p.F1123L

c.3369C>G

1 paper

NM_000834.5

p.F1123L

c.3369C>A