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

Selected Variant

1 paper

NM_173536.4

p.G62R

c.184G>A

Surrounding Variants

2 papers

NM_173536.4

p.G62R

c.184G>C

1 paper

NM_173536.4

p.D63Y

c.187G>T

1 paper

NM_173536.4

p.H60Y

c.178C>T

1 paper

NM_173536.4

p.A56T

c.166G>A

1 paper

NM_173536.4

p.W53*

c.159G>A

1 paper

NM_173536.4

p.W53*

c.158G>A

1 paper

NM_173536.4

p.V49V

c.147G>A

1 paper

NM_173536.4

p.Y75F

c.224A>T

1 paper

NM_173536.4

p.T48M

c.143C>T

1 paper

NM_173536.4

p.D46G

c.137A>G

1 paper

NM_173536.4

p.K78E

c.232A>G

1 paper

NM_173536.4

p.D43N

c.127G>A