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.I335S

c.1004T>G

Surrounding Variants

1 paper

NM_000827.4

p.I335N

c.1004T>A

1 paper

NM_000827.4

p.I335fs

c.1003_1004fs

1 paper

NM_000827.4

p.I335_D336insFs

c.1005_1006ins4

1 paper

NM_000827.4

p.P327S

c.979C>T

1 paper

NM_000827.4

p.A325T

c.973G>A

1 paper

NM_000827.4

p.R317L

c.950G>T

1 paper

NM_000827.4

p.S306N

c.917G>A

1 paper

NM_000827.4

p.A303S

c.907G>T

1 paper

NM_001258022.2

p.E312E

c.936G>A

1 paper

NM_000827.4

p.K298E

c.892A>G

1 paper

NM_000827.4

p.P286delFs

c.857delC

1 paper

NM_000827.4

p.D277V

c.830A>T