Varaico: Literature-Extracted Genetic Variants

GRIK1

182 papers

RefSeq Summary

Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to t...

Pfam Domains

ANF_receptoraa 53–398UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 447–561UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 575–846UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor kainate type subunit 1

HGNC Previous Symbol

GLUR5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001330994.2

p.P152Q

c.455C>A

Surrounding Variants

1 paper

NM_001330994.2

p.P152T

c.454C>A

1 paper

NM_001330994.2

p.A156G

c.467C>G

1 paper

NM_001330994.2

p.A160V

c.479C>T

1 paper

NM_001330994.2

p.T133I

c.398C>T

3 papers

NM_001330994.2

p.T174T

c.522A>C

1 paper

NM_001330994.2

p.A125V

c.374C>T

1 paper

NM_001330994.2

p.C123W

c.369C>G

1 paper

NM_001330994.2

p.S111Y

c.332C>A

1 paper

NM_001330994.2

p.Q99H

c.297G>T

1 paper

NM_001330994.2

p.Q99H

c.297G>C

1 paper

NM_001330994.2

p.Q99*

c.295C>T

1 paper

NM_001330994.2

p.G182Splc

c.544+1926A>G