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.Y478F

c.1433A>T

Surrounding Variants

2 papers

NM_001330994.2

p.Y478H

c.1432T>C

1 paper

NM_001330994.2

p.C479*

c.1437C>A

1 paper

NM_001330994.2

p.K467M

c.1400A>T

1 paper

NM_001330994.2

p.E512Q

c.1534G>C

1 paper

NM_001330994.2

p.H523_R524Splc

c.1569+51A>T

1 paper

NM_001330994.2

p.R524S

c.1572G>T

1 paper

NM_001330994.2

p.R524S

c.1572G>C

1 paper

NM_001330994.2

p.A528V

c.1583C>T

1 paper

NM_001330994.2

p.L551P

c.1652T>C

1 paper

NM_001330994.2

p.R558Q

c.1673G>A

1 paper

NM_001330994.2

p.P565T

c.1693C>A

1 paper

NM_001330994.2

p.V567I

c.1699G>A