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

4 papers

NM_198904.4

p.N167K

c.501C>G

Surrounding Variants

4 papers

NM_198904.4

p.N167K

c.501C>A

1 paper

NM_198904.4

p.R168K

c.503G>A

1 paper

NM_198904.4

p.R168S

c.504G>C

1 paper

NM_198904.4

p.R168S

c.504G>T

2 papers

NM_198904.4

p.M169L

c.505A>C

2 papers

NM_198904.4

p.M169L

c.505A>T

1 paper

NM_198904.4

p.P166insFs

c.497_498insA

1 paper

NM_198904.4

p.P166L

c.497C>T

3 papers

NM_198904.4

p.M169T

c.506T>C

4 papers

NM_198904.4

p.L170R

c.509T>G

1 paper

NM_198904.4

p.T164I

c.491C>T

1 paper

NM_198904.4

p.I163S

c.488T>G