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.S1019I

c.3056G>T

Surrounding Variants

1 paper

NM_000834.5

p.P1022T

c.3064C>A

1 paper

NM_000834.5

p.R1016K

c.3047G>A

1 paper

NM_000834.5

p.L1023P

c.3068T>C

1 paper

NM_000834.5

p.S1015A

c.3043T>G

1 paper

NM_000834.5

p.Q1014H

c.3042G>T

1 paper

NM_000834.5

p.Q1014H

c.3042G>C

2 papers

NM_000834.5

p.Q1014R

c.3041A>G

1 paper

NM_000834.5

p.Q1014K

c.3040C>A

5 papers

NM_000834.5

p.G1026S

c.3076G>A

2 papers

NM_000834.5

p.F1011L

c.3033C>G

2 papers

NM_000834.5

p.F1011L

c.3033C>A

2 papers

NM_000834.5

p.F1011L

c.3031T>C