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.S1033R

c.3099C>G

Surrounding Variants

1 paper

NM_000834.5

p.S1033R

c.3099C>A

1 paper

NM_000834.5

p.S1033R

c.3097A>C

1 paper

NM_000834.5

p.Q1034H

c.3102G>T

1 paper

NM_000834.5

p.Q1034H

c.3102G>C

1 paper

NM_000834.5

p.S1036G

c.3106A>G

1 paper

NM_000834.5

p.S1030del1

c.3088_3089delGGA

1 paper

NM_000834.5

p.D1037E

c.3111C>G

1 paper

NM_000834.5

p.D1037E

c.3111C>A

2 papers

NM_000834.5

p.P1028S

c.3082C>T

2 papers

NM_000834.5

p.G1040S

c.3118G>A

5 papers

NM_000834.5

p.G1026S

c.3076G>A

1 paper

NM_000834.5

p.S1043A

c.3127T>G