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

2 papers

NM_001330994.2

p.Y270C

c.809A>G

Surrounding Variants

1 paper

NM_001330994.2

p.Y270Y

c.810T>C

1 paper

NM_001330994.2

p.Y270*

c.810T>A

1 paper

NM_001330994.2

p.L267L

c.801G>A

1 paper

NM_001330994.2

p.G274S

c.820G>A

1 paper

NM_001330994.2

p.G274D

c.821G>A

1 paper

NM_001330994.2

p.D266N

c.796G>A

1 paper

NM_001330994.2

p.V275I

c.823G>A

1 paper

NM_001330994.2

p.F280L

c.838T>C

1 paper

NM_001330994.2

p.R281Q

c.842G>A

3 papers

NM_001330994.2

p.H289Y

c.865C>T

1 paper

NM_001330994.2

p.S292P

c.874T>C

1 paper

NM_001330994.2

p.S292T

c.874T>A