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.A160A

c.480A>T

Surrounding Variants

2 papers

NM_198904.4

p.A160E

c.479C>A

2 papers

NM_198904.4

p.A160V

c.479C>T

1 paper

NM_198904.4

p.A160T

c.478G>A

1 paper

NM_198904.4

p.A160S

c.478G>T

1 paper

NM_198904.4

p.D159A

c.476A>C

1 paper

NM_198904.4

p.D159V

c.476A>T

2 papers

NM_198904.4

p.W162*

c.485G>A

1 paper

NM_198904.4

p.D159N

c.475G>A

1 paper

NM_198904.4

p.D159Y

c.475G>T

2 papers

NM_198904.4

p.W162*

c.486G>A

1 paper

NM_198904.4

p.A158D

c.473C>A

3 papers

NM_198904.4

p.A158T

c.472G>A