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

1–12 of 132 variants

5 papers

NM_001330994.2

p.F902S

c.2705T>C

3 papers

NM_001330994.2

p.T174T

c.522A>C

3 papers

NM_001330994.2

p.H289Y

c.865C>T

3 papers

NM_001330994.2

p.D391D

c.1173C>T

2 papers

NM_001330994.2

p.L260R

c.779T>G

2 papers

NM_001330994.2

p.Y270C

c.809A>G

2 papers

NM_001330994.2

p.A332V

c.995C>T

2 papers

NM_001330994.2

p.R355C

c.1063C>T

2 papers

NM_001330994.2

p.G357R

c.1069G>C

2 papers

NM_001330994.2

p.G357R

c.1069G>A

2 papers

NM_001330994.2

p.L411*

c.1232T>A

2 papers

NM_001330994.2

p.Y478H

c.1432T>C