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.V39I

c.115G>A

Surrounding Variants

1 paper

NM_000834.5

p.I40V

c.118A>G

1 paper

NM_000834.5

p.I37N

c.110T>A

1 paper

NM_000834.5

p.V39_I40del2

c.115_119del6

1 paper

NM_000834.5

p.I37F

c.109A>T

1 paper

NM_000834.5

p.V42L

c.124G>T

1 paper

NM_000834.5

p.V42L

c.124G>C

1 paper

NM_000834.5

p.V42A

c.125T>C

4 papers

NM_000834.5

p.S34fs

c.100_101fs

1 paper

NM_000834.5

p.P33Fs

c.99delinsCAFs

1 paper

NM_000834.5

p.P33_S34Fs

c.99_101delinsAAFs

6 papers

NM_000834.5

p.S34fs

c.100_101fs

8 papers

NM_000834.5

p.P33insFs

c.99dupC