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.T1306_D1309delFs

c.3916_3926del11

Surrounding Variants

1 paper

NM_000834.5

p.V1308M

c.3922G>A

1 paper

NM_000834.5

p.F1307S

c.3920T>C

1 paper

NM_000834.5

p.T1306fs

c.3916_3917fs

1 paper

NM_000834.5

p.E1313K

c.3937G>A

1 paper

NM_000834.5

p.D1305insFs

c.3915dupC

1 paper

NM_000834.5

p.D1305N

c.3913G>A

1 paper

NM_000834.5

p.E1313_E1314delFs

c.3937_3940del4

1 paper

NM_000834.5

p.Y1304*

c.3912C>G

1 paper

NM_000834.5

p.Y1304*

c.3912C>A

2 papers

NM_000834.5

p.A1315V

c.3944C>T

1 paper

NM_000834.5

p.A1316T

c.3946G>A

13 papers

NM_000834.5

p.S1303A

c.3907T>G