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.D113A

c.338A>C

Surrounding Variants

2 papers

NM_000834.5

p.F114S

c.341T>C

2 papers

NM_000834.5

p.A109S

c.325G>T

2 papers

NM_000834.5

p.A109T

c.325G>A

1 paper

NM_000834.5

p.Q105_A107delFs

c.313_320del8

1 paper

NM_000834.5

p.E106V

c.317A>T

1 paper

NM_000834.5

p.P122S

c.364C>T

2 papers

NM_000834.5

p.D104A

c.311A>C

28 papers

NM_000834.5

p.P122P

c.366C>G

1 paper

NM_000834.5

p.P122_I123insFs

c.366_367insG

1 paper

NM_000834.5

p.I123fs

c.367_368fs

2 papers

NM_000834.5

p.D101A

c.302A>C

1 paper

NM_000834.5

p.D101N

c.301G>A