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.Q396*

c.1186C>T

Surrounding Variants

1 paper

NM_000827.4

p.D394Y

c.1180G>T

1 paper

NM_000827.4

p.G399G

c.1197C>T

1 paper

NM_000827.4

p.N401D

c.1201A>G

2 papers

NM_000827.4

p.N401S

c.1202A>G

2 papers

NM_000827.4

p.N406S

c.1217A>G

1 paper

NM_000827.4

p.L415L

c.1245A>C

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.Y435*

c.1305C>A

1 paper

NM_000827.4

p.Y435*

c.1305C>G

1 paper

NM_000827.4

p.A447fs

c.1339_1340fs

1 paper

NM_000827.4

p.R455H

c.1364G>A