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

1–12 of 218 variants

20 papers

NM_000827.4

p.A636T

c.1906G>A

3 papers

NM_000827.4

p.P521T

c.1561C>A

3 papers

NM_000827.4

p.I627T

c.1880T>C

2 papers

NM_000827.4

p.M187I

c.561G>A

2 papers

NM_000827.4

p.R208H

c.623G>A

2 papers

NM_000827.4

p.I229N

c.686T>A

2 papers

NM_000827.4

p.L255Q

c.764T>A

2 papers

NM_000827.4

p.R345Q

c.1034G>A

2 papers

NM_000827.4

p.N363S

c.1088A>G

2 papers

NM_000827.4

p.R377*

c.1129C>T

2 papers

NM_000827.4

p.N401S

c.1202A>G

2 papers

NM_000827.4

p.N406S

c.1217A>G