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.V640L

c.1918G>T

Surrounding Variants

2 papers

NM_000827.4

p.V640L

c.1918G>C

1 paper

NM_000827.4

p.T639S

c.1916C>G

1 paper

NM_000827.4

p.T639S

c.1915A>T

21 papers

NM_000827.4

p.A636T

c.1906G>A

NM_001258022.2

p.A646T

c.1936G>A

1 paper

NM_000827.4

p.P646H

c.1937C>A

3 papers

NM_000827.4

p.I627T

c.1880T>C

1 paper

NM_000827.4

p.L653V

c.1957C>G

1 paper

NM_000827.4

p.K655E

c.1963A>G

1 paper

NM_000827.4

p.V618I

c.1852G>A

1 paper

NM_000827.4

p.G662W

c.1984G>T

1 paper

NM_000827.4

p.T663M

c.1988C>T

2 papers

NM_000827.4

p.R613C

c.1837C>T