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.P136A

c.406C>G

Surrounding Variants

1 paper

NM_002042.5

p.F135_P136del2

c.403_407del6

1 paper

NM_002042.5

p.T119M

c.356C>T

1 paper

NM_002042.5

p.D117N

c.349G>A

1 paper

NM_002042.5

p.P156A

c.466C>G

1 paper

NM_002042.5

p.R179W

c.535C>T

1 paper

NM_002042.5

p.P182A

c.544C>G

1 paper

NM_002042.5

p.R191T

c.572G>C

1 paper

NM_002042.5

p.V114F

c.340G>T

1 paper

NM_002042.5

p.G100S

c.298G>A

1 paper

NM_002042.5

p.P98A

c.292C>G

2 papers

NM_002042.5

p.P95delFs

c.284_285delAG

1 paper

NM_002042.5

p.P95A

c.283C>G