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.P291A

c.871C>G

Surrounding Variants

3 papers

NM_002042.5

p.A292T

c.874G>A

2 papers

NM_002042.5

p.F284_L285del2

c.850_854del6

2 papers

NM_002042.5

p.F284_L285del1

c.852_854delAAG

1 paper

NM_002042.5

p.R279H

c.836G>A

1 paper

NM_002042.5

p.T276M

c.827C>T

1 paper

NM_002042.5

p.T276K

c.827C>A

1 paper

NM_002042.5

p.D306A

c.917A>C

1 paper

NM_002042.5

p.P311A

c.931C>G

2 papers

NM_002042.5

p.W267_Y268del2

c.799_803del6

2 papers

NM_002042.5

p.W267_Y268del1

c.801_803delTAC

1 paper

NM_002042.5

p.I318N

c.953T>A

1 paper

NM_002042.5

p.S325T

c.973T>A