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

1–12 of 95 variants

5 papers

NM_002042.5

p.M26V

c.76A>G

4 papers

NM_002042.5

p.H27R

c.80A>G

3 papers

NM_002042.5

p.A292T

c.874G>A

2 papers

NM_002042.5

p.R89_P90delFs

c.267_268delGC

2 papers

NM_002042.5

p.P95delFs

c.284_285delAG

2 papers

NM_002042.5

p.W267_Y268del1

c.801_803delTAC

2 papers

NM_002042.5

p.W267_Y268del2

c.799_803del6

2 papers

NM_002042.5

p.F284_L285del1

c.852_854delAAG

2 papers

NM_002042.5

p.F284_L285del2

c.850_854del6

2 papers

NM_002042.5

p.T329T

c.987G>A

1 paper

NM_002042.5

p.F9S

c.26T>C

1 paper

NM_002042.5

p.F9L

c.27T>G