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.Y180*

c.540C>G

Surrounding Variants

1 paper

NM_198904.4

p.Y180*

c.540C>A

2 papers

NM_198904.4

p.Y180Y

c.540C>T

1 paper

NM_198904.4

p.Y180C

c.539A>G

1 paper

NM_198904.4

p.T181N

c.542C>A

1 paper

NM_198904.4

p.L179V

c.535C>G

1 paper

NM_198904.4

p.R183M

c.548G>T

4 papers

NM_198904.4

p.R177Q

c.530G>A

2 papers

NM_198904.4

p.R177P

c.530G>C

1 paper

NM_198904.4

p.R177fs

c.529_530fs

32 papers

NM_198904.4

p.R177G

c.529C>G

5 papers

NM_198904.4

p.R177*

c.529C>T

2 papers

NM_198904.4

p.R177delFs

c.530delG