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.V288I

c.862G>A

Surrounding Variants

1 paper

NM_198904.4

p.V288A

c.863T>C

1 paper

NM_198904.4

p.V288G

c.863T>G

1 paper

NM_198904.4

p.L289V

c.865C>G

4 papers

NM_198904.4

p.V287I

c.859G>A

4 papers

NM_198904.4

p.V287L

c.859G>C

2 papers

NM_198904.4

p.V287F

c.859G>T

1 paper

NM_198904.4

p.L285R

c.854T>G

1 paper

NM_198904.4

p.L285I

c.853C>A

3 papers

NM_198904.4

p.L285V

c.853C>G

2 papers

NM_198904.4

p.W291S

c.872G>C

1 paper

NM_198904.4

p.T284K

c.851C>A

2 papers

NM_198904.4

p.T284A

c.850A>G