Varaico: Literature-Extracted Genetic Variants

GABRG2

349 papers

RefSeq Summary

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride cha...

Pfam Domains

Neur_chan_LBDaa 44–250UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_LBDaa 66–220UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 257–447UCSCNeurotransmitter-gated ion-channel transmembrane region

Neur_chan_membaa 348–439UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit gamma2

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, gamma 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198904.4

p.T120T

c.360G>A

Surrounding Variants

3 papers

NM_198904.4

p.T120M

c.359C>T

2 papers

NM_198904.4

p.T120fs

c.358_359fs

1 paper

NM_198904.4

p.W121*

c.362G>A

1 paper

NM_198904.4

p.W121*

c.363G>A

2 papers

NM_198904.4

p.W121C

c.363G>C

2 papers

NM_198904.4

p.W121C

c.363G>T

2 papers

NM_198904.4

p.Y122C

c.365A>G

2 papers

NM_198904.4

p.Y122*

c.366T>A

1 paper

NM_198904.4

p.Y122*

c.366T>G

1 paper

NM_198904.4

p.A118G

c.353C>G

5 papers

NM_198904.4

p.A118V

c.353C>T

1 paper

NM_198904.4

p.A118S

c.352G>T