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.D487N

c.1459G>A

Surrounding Variants

1 paper

NM_000827.4

p.V490G

c.1469T>G

1 paper

NM_000827.4

p.L497F

c.1491G>C

1 paper

NM_000827.4

p.L497F

c.1491G>T

1 paper

NM_001258021.2

p.R509Q

c.1526G>A

2 papers

NM_000827.4

p.G513E

c.1538G>A

3 papers

NM_000827.4

p.P521T

c.1561C>A

1 paper

NM_000827.4

p.P521L

c.1562C>T

1 paper

NM_000827.4

p.V528_S530del0

c.1582_1590del9

1 paper

NM_000827.4

p.F531L

c.1591T>C

1 paper

NM_000827.4

p.F531L

c.1593C>A

1 paper

NM_000827.4

p.F531L

c.1593C>G

1 paper

NM_000827.4

p.D533N

c.1597G>A