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.T83I

c.248C>T

Surrounding Variants

2 papers

NM_000834.5

p.R84C

c.250C>T

2 papers

NM_000834.5

p.R84H

c.251G>A

1 paper

NM_000834.5

p.I85T

c.254T>C

1 paper

NM_000834.5

p.I81V

c.241A>G

2 papers

NM_000834.5

p.C86*

c.258T>A

1 paper

NM_000834.5

p.P78P

c.234A>T

2 papers

NM_000834.5

p.P78T

c.232C>A

1 paper

NM_000834.5

p.T83_L88del6

c.247_263del18

1 paper

NM_000834.5

p.D91_R92delins

c.271_274delinsCCCT

1 paper

NM_000834.5

p.R92insFs

c.275_276insAA

1 paper

NM_000834.5

p.R92P

c.275G>C

1 paper

NM_000834.5

p.R92Q

c.275G>A