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.N52H

c.154A>C

Surrounding Variants

1 paper

NM_033223.5

p.N52N

c.156C>T

1 paper

NM_033223.5

p.R56S

c.168A>T

1 paper

NM_033223.5

p.V47M

c.139G>A

1 paper

NM_033223.5

p.D65Y

c.193G>T

1 paper

NM_033223.5

p.L15*

c.44T>A

1 paper

NM_033223.5

p.C10W

c.30C>G

1 paper

NM_033223.5

p.L7I

c.19C>A

1 paper

NM_033223.5

p.L5L

c.15G>A

1 paper

NM_033223.5

p.P3delFs

c.7delC