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.K1293del1

c.3877_3878delCTT

Surrounding Variants

2 papers

NM_000834.5

p.R1295W

c.3883C>T

2 papers

NM_000834.5

p.N1294T

c.3881A>C

1 paper

NM_000834.5

p.R1295Q

c.3884G>A

3 papers

NM_000834.5

p.K1293R

c.3878A>G

1 paper

NM_000834.5

p.N1296H

c.3886A>C

3 papers

NM_000834.5

p.K1292R

c.3875A>G

1 paper

NM_000834.5

p.K1297R

c.3890A>G

1 paper

NM_000834.5

p.K1292Q

c.3874A>C

1 paper

NM_000834.5

p.L1298P

c.3893T>C

2 papers

NM_000834.5

p.R1299C

c.3895C>T

1 paper

NM_000834.5

p.R1300W

c.3898C>T

9 papers

NM_000834.5

p.R1300Q

c.3899G>A