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.S292T

c.874T>A

Surrounding Variants

1 paper

NM_001330994.2

p.S292P

c.874T>C

3 papers

NM_001330994.2

p.H289Y

c.865C>T

1 paper

NM_001330994.2

p.W297*

c.890G>A

1 paper

NM_001330994.2

p.W297*

c.891G>A

1 paper

NM_001330994.2

p.S298T

c.892T>A

1 paper

NM_001330994.2

p.S298Y

c.893C>A

1 paper

NM_001330994.2

p.R301T

c.902G>C

1 paper

NM_001330994.2

p.R281Q

c.842G>A

1 paper

NM_001330994.2

p.F280L

c.838T>C

1 paper

NM_001330994.2

p.E309K

c.925G>A

1 paper

NM_001330994.2

p.V275I

c.823G>A

1 paper

NM_001330994.2

p.G274D

c.821G>A