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

2 papers

NM_000827.4

p.L255Q

c.764T>A

Surrounding Variants

1 paper

NM_000827.4

p.L255L

c.763C>T

1 paper

NM_000827.4

p.L255_V256insFs

c.765_766ins4

1 paper

NM_000827.4

p.N257S

c.770A>G

1 paper

NM_000827.4

p.N249S

c.746A>G

1 paper

NM_000827.4

p.A248T

c.742G>A

1 paper

NM_000827.4

p.I262I

c.786T>C

1 paper

NM_000827.4

p.A264T

c.790G>A

1 paper

NM_000827.4

p.M267I

c.801G>A

1 paper

NM_000827.4

p.Q268Q

c.804G>A

1 paper

NM_000827.4

p.L240*

c.719T>G

1 paper

NM_000827.4

p.D237G

c.710A>G

1 paper

NM_000827.4

p.D274N

c.820G>A