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.F1421L

c.4261T>C

Surrounding Variants

1 paper

NM_000834.5

p.F1421L

c.4263C>G

1 paper

NM_000834.5

p.F1421L

c.4263C>A

1 paper

NM_000834.5

p.D1420G

c.4259A>G

1 paper

NM_000834.5

p.R1422W

c.4264C>T

1 paper

NM_000834.5

p.R1422Q

c.4265G>A

1 paper

NM_000834.5

p.A1423V

c.4268C>T

6 papers

NM_000834.5

p.L1424F

c.4270C>T

1 paper

NM_000834.5

p.R1418W

c.4252A>T

1 paper

NM_000834.5

p.A1417T

c.4249G>A

1 paper

NM_000834.5

p.K1416Q

c.4246A>C

2 papers

NM_000834.5

p.S1415delFs

c.4244delG

10 papers

NM_000834.5

p.S1415L

c.4244C>T