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.I905T

c.2714T>C

Surrounding Variants

1 paper

NM_001330994.2

p.E908K

c.2722G>A

5 papers

NM_001330994.2

p.F902S

c.2705T>C

1 paper

NM_001330994.2

p.Q916*

c.2746C>T

1 paper

NM_001330994.2

p.T932S

c.2794A>T

1 paper

NM_001330994.2

p.T932R

c.2795C>G

1 paper

NM_001330994.2

p.N882delFs

c.2644delT

1 paper

NM_001330994.2

p.R875fs

c.2623_2624fs