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.I229N

c.686T>A

Surrounding Variants

1 paper

NM_000827.4

p.N222H

c.664A>C

1 paper

NM_000827.4

p.K221Q

c.661A>C

1 paper

NM_000827.4

p.K218M

c.653A>T

1 paper

NM_000827.4

p.I212T

c.635T>C

2 papers

NM_000827.4

p.R208H

c.623G>A

2 papers

NM_001258021.2

p.R218C

c.652C>T

NM_000827.4

p.R208C

c.622C>T

1 paper

NM_000827.4

p.S206S

c.618A>T

1 paper

NM_000827.4

p.S206T

c.616T>A

1 paper

NM_000827.4

p.V200M

c.598G>A

1 paper

NM_000827.4

p.R198Q

c.593G>A

1 paper

NM_000827.4

p.E197K

c.589G>A

1 paper

NM_000827.4

p.E193*

c.577G>T