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.L411*

c.1232T>A

Surrounding Variants

1 paper

NM_001330994.2

p.K409N

c.1227A>T

1 paper

NM_001330994.2

p.K409N

c.1227A>C

1 paper

NM_001330994.2

p.A404S

c.1210G>T

1 paper

NM_001330994.2

p.I393T

c.1178T>C

3 papers

NM_001330994.2

p.D391D

c.1173C>T

1 paper

NM_001330994.2

p.D389Y

c.1165G>T

1 paper

NM_001330994.2

p.G383D

c.1148G>A

1 paper

NM_001330994.2

p.R368W

c.1102C>T

1 paper

NM_001330994.2

p.N428Y

c.1282A>T

1 paper

NM_001330994.2

p.K467M

c.1400A>T

2 papers

NM_001330994.2

p.Y478H

c.1432T>C

1 paper

NM_001330994.2

p.Y478F

c.1433A>T