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.R460M

c.1379G>T

Surrounding Variants

1 paper

NM_002042.5

p.P464A

c.1390C>G

1 paper

NM_002042.5

p.I455I

c.1365T>A

1 paper

NM_002042.5

p.I468N

c.1403T>A

1 paper

NM_002042.5

p.L469S

c.1406T>C

1 paper

NM_002042.5

p.Y474*

c.1422C>G

1 paper

NM_002042.5

p.Y474*

c.1422C>A

1 paper

NM_002042.5

p.W475*

c.1424G>A

1 paper

NM_002042.5

p.W475*

c.1425G>A

1 paper

NM_002042.5

p.S443delFs

c.1329delG

1 paper

NM_002042.5

p.I477L

c.1429A>C

1 paper

NM_002042.5

p.P436A

c.1306C>G

1 paper

NM_002042.5

p.P420A

c.1258C>G