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

10 papers

NM_198904.4

p.I107T

c.320T>C

Surrounding Variants

1 paper

NM_198904.4

p.N108Y

c.322A>T

1 paper

NM_198904.4

p.A106G

c.317C>G

32 papers

NM_198904.4

p.A106T

c.316G>A

2 papers

NM_198904.4

p.A106P

c.316G>C

1 paper

NM_198904.4

p.N108K

c.324T>A

11 papers

NM_198904.4

p.N105N

c.315C>T

1 paper

NM_198904.4

p.N105Y

c.313A>T

1 paper

NM_198904.4

p.M109_E110Splc

c.327+1G>A

2 papers

NM_198904.4

p.V104E

c.311T>A

1 paper

NM_198904.4

p.V104G

c.311T>G

1 paper

NM_198904.4

p.P103L

c.308C>T

2 papers

NM_198904.4

p.P103S

c.307C>T