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

2 papers

NM_198904.4

p.Y46C

c.137A>G

Surrounding Variants

2 papers

NM_198904.4

p.Y46S

c.137A>C

2 papers

NM_198904.4

p.Y46*

c.138T>A

2 papers

NM_198904.4

p.Y46*

c.138T>G

2 papers

NM_198904.4

p.D45E

c.135C>A

2 papers

NM_198904.4

p.D45E

c.135C>G

1 paper

NM_198904.4

p.E47K

c.139G>A

2 papers

NM_198904.4

p.E47G

c.140A>G

1 paper

NM_198904.4

p.D45G

c.134A>G

1 paper

NM_198904.4

p.D48H

c.142G>C

2 papers

NM_198904.4

p.D48G

c.143A>G

1 paper

NM_198904.4

p.D48E

c.144T>A

1 paper

NM_198904.4

p.D48E

c.144T>G