Varaico: Literature-Extracted Genetic Variants

GABRG1

88 papers

RefSeq Summary

The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benz...

Pfam Domains

Neur_chan_LBDaa 64–270UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 277–384UCSCNeurotransmitter-gated ion-channel transmembrane region

Neur_chan_membaa 386–459UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit gamma1

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, gamma 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 91 variants

3 papers

NM_173536.4

p.F343L

c.1027T>C

3 papers

NM_173536.4

p.F343L

c.1029T>G

3 papers

NM_173536.4

p.F343L

c.1029T>A

3 papers

NM_173536.4

p.S414N

c.1241G>A

2 papers

NM_173536.4

p.G62R

c.184G>C

2 papers

NM_173536.4

p.C188W

c.564T>G

2 papers

NM_173536.4

p.V339A

c.1016T>C

2 papers

NM_173536.4

p.I389V

c.1165A>G

1 paper

NM_173536.4

p.L4F

c.12G>C

1 paper

NM_173536.4

p.F12L

c.36T>G

1 paper

NM_173536.4

p.S16R

c.46A>C

1 paper

NM_173536.4

p.S16R

c.48T>G