Varaico: Literature-Extracted Genetic Variants

GRIA1

277 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. These receptors are heteromeri...

Pfam Domains

ANF_receptoraa 46–383UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 416–531UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 545–826UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor AMPA type subunit 1

HGNC Previous Symbol

GLUR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000827.4

p.G375S

c.1123G>A

Surrounding Variants

1 paper

NM_000827.4

p.G375D

c.1124G>A

2 papers

NM_000827.4

p.R377*

c.1129C>T

1 paper

NM_000827.4

p.T365M

c.1094C>T

2 papers

NM_000827.4

p.N363S

c.1088A>G

1 paper

NM_000827.4

p.R361Q

c.1082G>A

1 paper

NM_000827.4

p.R360C

c.1078C>T

2 papers

NM_000827.4

p.R345Q

c.1034G>A

1 paper

NM_000827.4

p.I335_D336insFs

c.1005_1006ins4

1 paper

NM_000827.4

p.I335N

c.1004T>A

1 paper

NM_000827.4

p.I335S

c.1004T>G

1 paper

NM_000827.4

p.I335fs

c.1003_1004fs

1 paper

NM_000827.4

p.P327S

c.979C>T