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.S561N

c.1682G>A

Surrounding Variants

1 paper

NM_000827.4

p.S567R

c.1699A>C

1 paper

NM_000827.4

p.F555S

c.1664T>C

1 paper

NM_000827.4

p.S567R

c.1701T>A

1 paper

NM_000827.4

p.S567R

c.1701T>G

1 paper

NM_000827.4

p.V553I

c.1657G>A

1 paper

NM_001258021.2

p.V560A

c.1679T>C

1 paper

NM_000827.4

p.T578A

c.1732A>G

2 papers

NM_000827.4

p.Y537*

c.1611T>A

2 papers

NM_000827.4

p.Y537*

c.1611T>G

1 paper

NM_000827.4

p.A536S

c.1606G>T

1 paper

NM_000827.4

p.F588L

c.1762T>C

1 paper

NM_000827.4

p.F588L

c.1764C>A