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

2 papers

NM_002042.5

p.R89_P90delFs

c.267_268delGC

Surrounding Variants

1 paper

NM_002042.5

p.P90A

c.268C>G

1 paper

NM_002042.5

p.F86L

c.258C>G

1 paper

NM_002042.5

p.F86L

c.258C>A

1 paper

NM_002042.5

p.F86L

c.256T>C

1 paper

NM_002042.5

p.P71A

c.211C>G

1 paper

NM_002042.5

p.D66Y

c.196G>T

1 paper

NM_002042.5

p.P65A

c.193C>G

1 paper

NM_002042.5

p.R63Q

c.188G>A

1 paper

NM_002042.5

p.P59fs

c.175_176fs

1 paper

NM_002042.5

p.P59A

c.175C>G

1 paper

NM_002042.5

p.P95A

c.283C>G

2 papers

NM_002042.5

p.P95delFs

c.284_285delAG