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.K127E

c.379A>G

Surrounding Variants

3 papers

NM_198904.4

p.K127R

c.380A>G

1 paper

NM_198904.4

p.K127I

c.380A>T

1 paper

NM_198904.4

p.L126*

c.377T>A

4 papers

NM_198904.4

p.R125H

c.374G>A

2 papers

NM_198904.4

p.R125P

c.374G>C

1 paper

NM_198904.4

p.R125L

c.374G>T

11 papers

NM_198904.4

p.R125C

c.373C>T

3 papers

NM_198904.4

p.R124S

c.372A>C

2 papers

NM_198904.4

p.R124S

c.372A>T

2 papers

NM_198904.4

p.S130N

c.389G>A

1 paper

NM_198904.4

p.T131I

c.392C>T

2 papers

NM_198904.4

p.Y122*

c.366T>A