Varaico: Literature-Extracted Genetic Variants

GABRR1

62 papers

RefSeq Summary

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several tr...

Pfam Domains

Neur_chan_LBDaa 74–281UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 288–475UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit rho1

HGNC Previous Name

gamma-aminobutyric acid (GABA) receptor, rho 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002042.5

p.P384A

c.1150C>G

Surrounding Variants

1 paper

NM_002042.5

p.P390A

c.1168C>G

1 paper

NM_002042.5

p.P391A

c.1171C>G

1 paper

NM_002042.5

p.P392A

c.1174C>G

1 paper

NM_002042.5

p.D398N

c.1192G>A

1 paper

NM_002042.5

p.D398G

c.1193A>G

1 paper

NM_002042.5

p.N407S

c.1220A>G

1 paper

NM_002042.5

p.N411S

c.1232A>G

1 paper

NM_002042.5

p.P414A

c.1240C>G

1 paper

NM_002042.5

p.E415G

c.1244A>G

1 paper

NM_002042.5

p.P420A

c.1258C>G

1 paper

NM_002042.5

p.P436A

c.1306C>G

1 paper

NM_002042.5

p.S443delFs

c.1329delG