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.G559S

c.1675G>A

Surrounding Variants

1 paper

NM_018558.4

p.E564D

c.1692G>C

1 paper

NM_018558.4

p.E564D

c.1692G>T

1 paper

NM_018558.4

p.K540K

c.1620G>A

1 paper

NM_018558.4

p.E577D

c.1731G>C

1 paper

NM_018558.4

p.E577D

c.1731G>T

1 paper

NM_018558.4

p.T591_F596del0

c.1771_1788del18

1 paper

NM_018558.4

p.S589P

c.1765T>C

1 paper

NM_018558.4

p.V604I

c.1810G>A

1 paper

NM_018558.4

p.S500Y

c.1499C>A

1 paper

NM_018558.4

p.E498K

c.1492G>A

1 paper

NM_018558.4

p.H495Y

c.1483C>T

1 paper

NM_018558.4

p.T494I

c.1481C>T