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

2 papers

NM_173536.4

p.I389V

c.1165A>G

Surrounding Variants

1 paper

NM_173536.4

p.P390S

c.1168C>T

1 paper

NM_173536.4

p.P397P

c.1191G>A

1 paper

NM_173536.4

p.P380A

c.1138C>G

1 paper

NM_173536.4

p.D400H

c.1198G>C

1 paper

NM_173536.4

p.Y402S

c.1205A>C

1 paper

NM_173536.4

p.G403A

c.1208G>C

3 papers

NM_173536.4

p.S414N

c.1241G>A

1 paper

NM_173536.4

p.R428M

c.1283G>T

1 paper

NM_173536.4

p.R428T

c.1283G>C

1 paper

NM_173536.4

p.I432K

c.1295T>A

1 paper

NM_173536.4

p.R435C

c.1303C>T

1 paper

NM_173536.4

p.R435H

c.1304G>A