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.R108R

c.324A>C

Surrounding Variants

1 paper

NM_033223.5

p.L107H

c.320T>A

1 paper

NM_033223.5

p.T112T

c.336A>G

1 paper

NM_033223.5

p.T103T

c.309A>G

1 paper

NM_033223.5

p.M113I

c.339G>A

1 paper

NM_033223.5

p.M113I

c.339G>C

1 paper

NM_033223.5

p.M113I

c.339G>T

1 paper

NM_033223.5

p.K114E

c.340A>G

1 paper

NM_033223.5

p.W102ins3

c.304_305ins9

1 paper

NM_033223.5

p.D95H

c.283G>C

1 paper

NM_033223.5

p.T131T

c.393C>T

1 paper

NM_033223.5

p.N135H

c.403A>C

2 papers

NM_033223.5

p.S136C

c.407C>G