Varaico: Literature-Extracted Genetic Variants

GABRQ

65 papers

RefSeq Summary

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta s...

Pfam Domains

Neur_chan_LBDaa 59–265UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 272–627UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit theta

HGNC Previous Name

gamma-aminobutyric acid (GABA) receptor, theta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018558.4

p.M102I

c.306G>C

Surrounding Variants

1 paper

NM_018558.4

p.M102I

c.306G>A

1 paper

NM_018558.4

p.M102I

c.306G>T

1 paper

NM_018558.4

p.M102V

c.304A>G

1 paper

NM_018558.4

p.I89N

c.266T>A

1 paper

NM_018558.4

p.P84L

c.251C>T

1 paper

NM_018558.4

p.T105M

c.314C>T

1 paper

NM_018558.4

p.R118C

c.352C>T

1 paper

NM_018558.4

p.V158M

c.472G>A

1 paper

NM_018558.4

p.N160K

c.480T>A

1 paper

NM_018558.4

p.N160K

c.480T>G

1 paper

NM_018558.4

p.R161H

c.482G>A

1 paper

NM_018558.4

p.Q195K

c.583C>A