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

4 papers

NM_002042.5

p.H27R

c.80A>G

Surrounding Variants

1 paper

NM_002042.5

p.M26L

c.76A>T

5 papers

NM_002042.5

p.M26V

c.76A>G

1 paper

NM_002042.5

p.M26L

c.76A>C

1 paper

NM_002042.5

p.G30fs

c.88_89fs

1 paper

NM_002042.5

p.V33F

c.97G>T

1 paper

NM_002042.5

p.M36L

c.106A>T

1 paper

NM_002042.5

p.F9L

c.27T>G

1 paper

NM_002042.5

p.F9F

c.27T>C

1 paper

NM_002042.5

p.F9S

c.26T>C