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

13 papers

NM_018558.4

p.I478F

c.1432A>T

Surrounding Variants

1 paper

NM_018558.4

p.I478del1

c.1432_1433delATT

1 paper

NM_018558.4

p.E487K

c.1459G>A

1 paper

NM_018558.4

p.T494I

c.1481C>T

1 paper

NM_018558.4

p.H495Y

c.1483C>T

1 paper

NM_018558.4

p.E498K

c.1492G>A

1 paper

NM_018558.4

p.S500Y

c.1499C>A

1 paper

NM_018558.4

p.S455Y

c.1364C>A

1 paper

NM_018558.4

p.L444P

c.1331T>C

1 paper

NM_018558.4

p.P443delFs

c.1329delC

1 paper

NM_018558.4

p.S433G

c.1297A>G

1 paper

NM_018558.4

p.K540K

c.1620G>A

1 paper

NM_018558.4

p.A406insFs

c.1217dupC