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.R169*

c.505C>T

Surrounding Variants

1 paper

NM_173536.4

p.R169Q

c.506G>A

1 paper

NM_173536.4

p.I161L

c.481A>T

1 paper

NM_173536.4

p.I161L

c.481A>C

1 paper

NM_173536.4

p.Y178H

c.532T>C

1 paper

NM_173536.4

p.P146T

c.436C>A

1 paper

NM_173536.4

p.W144L

c.431G>T

1 paper

NM_173536.4

p.F115fs

c.343_344fs

1 paper

NM_173536.4

p.Y109*

c.327T>G

1 paper

NM_173536.4

p.Y109*

c.327T>A

1 paper

NM_173536.4

p.I184delFs

c.552delA

2 papers

NM_173536.4

p.C188W

c.564T>G

1 paper

NM_173536.4

p.H193P

c.578A>C