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.T358S

c.1073C>G

Surrounding Variants

1 paper

NM_173536.4

p.G352E

c.1055G>A

1 paper

NM_173536.4

p.E350K

c.1048G>A

1 paper

NM_173536.4

p.K371E

c.1111A>G

1 paper

NM_173536.4

p.K371N

c.1113G>T

1 paper

NM_173536.4

p.K371N

c.1113G>C

1 paper

NM_173536.4

p.L372Q

c.1115T>A

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.F343L

c.1027T>C

1 paper

NM_173536.4

p.F341L

c.1023C>G

1 paper

NM_173536.4

p.F341L

c.1023C>A

1 paper

NM_173536.4

p.F341L

c.1021T>C