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.P1266L

c.3797C>T

Surrounding Variants

1 paper

NM_000834.5

p.P1266S

c.3796C>T

6 papers

NM_000834.5

p.A1267S

c.3799G>T

1 paper

NM_000834.5

p.A1267T

c.3799G>A

1 paper

NM_000834.5

p.P1269S

c.3805C>T

1 paper

NM_000834.5

p.L1263V

c.3787C>G

1 paper

NM_000834.5

p.E1262K

c.3784G>A

2 papers

NM_000834.5

p.A1271V

c.3812C>T

1 paper

NM_000834.5

p.Q1261L

c.3782A>T

1 paper

NM_000834.5

p.T1273M

c.3818C>T

5 papers

NM_000834.5

p.T1273K

c.3818C>A

1 paper

NM_000834.5

p.D1257N

c.3769G>A

1 paper

NM_000834.5

p.A1276G

c.3827C>G