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.A334S

c.1000G>T

Surrounding Variants

7 papers

NM_198904.4

p.A334T

c.1000G>A

3 papers

NM_198904.4

p.A334P

c.1000G>C

1 paper

NM_198904.4

p.A334E

c.1001C>A

1 paper

NM_198904.4

p.A334G

c.1001C>G

3 papers

NM_198904.4

p.A334V

c.1001C>T

1 paper

NM_198904.4

p.T333I

c.998C>T

1 paper

NM_198904.4

p.V332G

c.995T>G

1 paper

NM_198904.4

p.D336N

c.1006G>A

1 paper

NM_198904.4

p.V332L

c.994G>C

2 papers

NM_198904.4

p.D336G

c.1007A>G

4 papers

NM_198904.4

p.Y331C

c.992A>G

1 paper

NM_198904.4

p.D336E

c.1008T>A