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.L1134P

c.3401T>C

Surrounding Variants

1 paper

NM_000834.5

p.L1134fs

c.3400_3401fs

1 paper

NM_000834.5

p.L1134V

c.3400C>G

1 paper

NM_000834.5

p.F1137I

c.3409T>A

1 paper

NM_000834.5

p.R1138L

c.3413G>T

1 paper

NM_000834.5

p.R1130L

c.3389G>T

2 papers

NM_000834.5

p.R1130Q

c.3389G>A

1 paper

NM_000834.5

p.R1138Q

c.3413G>A

2 papers

NM_000834.5

p.R1130W

c.3388C>T

2 papers

NM_000834.5

p.T1139A

c.3415A>G

1 paper

NM_000834.5

p.T1139K

c.3416C>A

1 paper

NM_000834.5

p.L1134_T1139delFs

c.3400_3416del17

2 papers

NM_000834.5

p.G1128E

c.3383G>A