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.S917P

c.2749T>C

Surrounding Variants

1 paper

NM_000834.5

p.S917L

c.2750C>T

1 paper

NM_000834.5

p.Q919*

c.2755C>T

1 paper

NM_000834.5

p.Q919K

c.2755C>A

1 paper

NM_000834.5

p.Q919R

c.2756A>G

1 paper

NM_000834.5

p.V914A

c.2741T>C

1 paper

NM_000834.5

p.V914M

c.2740G>A

1 paper

NM_000834.5

p.S920N

c.2759G>A

1 paper

NM_000834.5

p.A921P

c.2761G>C

1 paper

NM_000834.5

p.A921T

c.2761G>A

1 paper

NM_000834.5

p.D923N

c.2767G>A

6 papers

NM_000834.5

p.R926*

c.2776C>T

1 paper

NM_000834.5

p.R926G

c.2776C>G