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.P122_I123insFs

c.366_367insG

Surrounding Variants

28 papers

NM_000834.5

p.P122P

c.366C>G

1 paper

NM_000834.5

p.P122S

c.364C>T

1 paper

NM_000834.5

p.I123fs

c.367_368fs

1 paper

NM_000834.5

p.I126T

c.377T>C

2 papers

NM_000834.5

p.F114S

c.341T>C

1 paper

NM_000834.5

p.D113A

c.338A>C

1 paper

NM_000834.5

p.M132I

c.396G>T

1 paper

NM_000834.5

p.M132I

c.396G>C

1 paper

NM_000834.5

p.M132I

c.396G>A

1 paper

NM_000834.5

p.M134T

c.401T>C

1 paper

NM_000834.5

p.A135P

c.403G>C

1 paper

NM_000834.5

p.A135G

c.404C>G