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.S139N

c.416G>A

Surrounding Variants

1 paper

NM_198904.4

p.S139C

c.415A>T

2 papers

NM_198904.4

p.N138T

c.413A>C

4 papers

NM_198904.4

p.N140S

c.419A>G

2 papers

NM_198904.4

p.M141V

c.421A>G

1 paper

NM_198904.4

p.M141R

c.422T>G

1 paper

NM_198904.4

p.L137M

c.409T>A

1 paper

NM_198904.4

p.R136R

c.408A>T

2 papers

NM_198904.4

p.R136Q

c.407G>A

1 paper

NM_198904.4

p.G143insFs

c.429dupG

25 papers

NM_198904.4

p.R136*

c.406C>T

1 paper

NM_198904.4

p.R136fs

c.406_407fs

1 paper

NM_198904.4

p.V142V

c.426G>A