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.A651D

c.1952C>A

Surrounding Variants

2 papers

NM_000834.5

p.A651T

c.1951G>A

2 papers

NM_000834.5

p.A652P

c.1954G>C

2 papers

NM_000834.5

p.A652T

c.1954G>A

2 papers

NM_000834.5

p.A652V

c.1955C>T

3 papers

NM_000834.5

p.A652G

c.1955C>G

1 paper

NM_000834.5

p.A652D

c.1955C>A

1 paper

NM_000834.5

p.F653V

c.1957T>G

4 papers

NM_000834.5

p.N649S

c.1946A>G

2 papers

NM_000834.5

p.N649T

c.1946A>C

3 papers

NM_000834.5

p.M654V

c.1960A>G

2 papers

NM_000834.5

p.M654R

c.1961T>G

3 papers

NM_000834.5

p.M654I

c.1962G>T