Varaico: Literature-Extracted Genetic Variants

GABRG3

76 papers

RefSeq Summary

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride cha...

Pfam Domains

Neur_chan_LBDaa 47–253UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 260–461UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit gamma3

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, gamma 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033223.5

p.V327G

c.980T>G

Surrounding Variants

1 paper

NM_033223.5

p.F328L

c.982T>C

1 paper

NM_033223.5

p.F328L

c.984C>A

1 paper

NM_033223.5

p.F328L

c.984C>G

1 paper

NM_033223.5

p.A330T

c.988G>A

1 paper

NM_033223.5

p.T321T

c.963C>T

1 paper

NM_033223.5

p.L318H

c.953T>A

1 paper

NM_033223.5

p.C343R

c.1027T>C

1 paper

NM_033223.5

p.C343Y

c.1028G>A

1 paper

NM_033223.5

p.S306F

c.917C>T

1 paper

NM_033223.5

p.R304_K305ins9

c.910_914ins27

2 papers

NM_033223.5

p.A303T

c.907G>A

1 paper

NM_033223.5

p.A303_R304ins9

c.907_911ins27