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.E361*

c.1081G>T

Surrounding Variants

1 paper

NM_002042.5

p.W349*

c.1047G>A

1 paper

NM_002042.5

p.W349*

c.1046G>A

1 paper

NM_002042.5

p.K375N

c.1125G>T

1 paper

NM_002042.5

p.K375N

c.1125G>C

1 paper

NM_002042.5

p.R380W

c.1138C>T

1 paper

NM_002042.5

p.V338I

c.1012G>A

1 paper

NM_002042.5

p.P336L

c.1007C>T

1 paper

NM_002042.5

p.P336A

c.1006C>G

2 papers

NM_002042.5

p.T329T

c.987G>A

1 paper

NM_002042.5

p.S325T

c.973T>A

1 paper

NM_002042.5

p.I318N

c.953T>A

1 paper

NM_002042.5

p.P384A

c.1150C>G