Varaico: Literature-Extracted Genetic Variants

GRIA4

166 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 39–382UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 415–530UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 544–825UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor AMPA type subunit 4

HGNC Previous Symbol

GLUR4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 178 variants

4 papers

NM_000829.4

p.E727D

c.2181G>C

4 papers

NM_000829.4

p.E727D

c.2181G>T

3 papers

NM_000829.4

p.T639S

c.1915A>T

3 papers

NM_000829.4

p.T639S

c.1916C>G

3 papers

NM_000829.4

p.N641D

c.1921A>G

3 papers

NM_000829.4

p.A643G

c.1928C>G

3 papers

NM_000829.4

p.A644V

c.1931C>T

3 papers

NM_000829.4

p.S653C

c.1958C>G

3 papers

NM_000829.4

p.E727Q

c.2179G>C

3 papers

NM_000829.4

p.E727A

c.2180A>C

3 papers

NM_000829.4

p.R765G

c.2293A>G

2 papers

NM_000829.4

p.F83Splc

c.247+15999T>G