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.R467Q

c.1400G>A

Surrounding Variants

1 paper

NM_000827.4

p.W474*

c.1421G>A

1 paper

NM_000827.4

p.W474*

c.1422G>A

1 paper

NM_000827.4

p.I458I

c.1374T>A

1 paper

NM_000827.4

p.R455H

c.1364G>A

1 paper

NM_000827.4

p.G484G

c.1452A>C

1 paper

NM_000827.4

p.A447fs

c.1339_1340fs

1 paper

NM_000827.4

p.Y435*

c.1305C>A

1 paper

NM_000827.4

p.Y435*

c.1305C>G

2 papers

NM_000827.4

p.D433A

c.1298A>C

1 paper

NM_000827.4

p.D433V

c.1298A>T

1 paper

NM_000827.4

p.L415L

c.1245A>C

2 papers

NM_000827.4

p.N406S

c.1217A>G