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

3 papers

NM_198904.4

p.R224Q

c.671G>A

Surrounding Variants

5 papers

NM_198904.4

p.R224*

c.670C>T

1 paper

NM_198904.4

p.W222*

c.666G>A

1 paper

NM_198904.4

p.S226F

c.677C>T

1 paper

NM_198904.4

p.W222*

c.665G>A

1 paper

NM_198904.4

p.V227I

c.679G>A

1 paper

NM_198904.4

p.V227F

c.679G>T

1 paper

NM_198904.4

p.E228K

c.682G>A

1 paper

NM_198904.4

p.Y220*

c.660T>A

1 paper

NM_198904.4

p.Y220*

c.660T>G

2 papers

NM_198904.4

p.E228A

c.683A>C

2 papers

NM_198904.4

p.Y220C

c.659A>G

1 paper

NM_198904.4

p.V229_F240del12

c.685_719del36