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

1–12 of 55 variants

13 papers

NM_018558.4

p.I478F

c.1432A>T

2 papers

NM_018558.4

p.I401T

c.1202T>C

1 paper

NM_018558.4

p.M1L

c.1A>C

1 paper

NM_018558.4

p.M1V

c.1A>G

1 paper

NM_018558.4

p.M1L

c.1A>T

1 paper

NM_018558.4

p.A10T

c.28G>A

1 paper

NM_018558.4

p.L14Q

c.41T>A

1 paper

NM_018558.4

p.L15I

c.43C>A

1 paper

NM_018558.4

p.I16N

c.47T>A

1 paper

NM_018558.4

p.L20H

c.59T>A

1 paper

NM_018558.4

p.E42K

c.124G>A

1 paper

NM_018558.4

p.N52S

c.155A>G