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.T276I

c.827C>T

Surrounding Variants

1 paper

NM_198903.2

p.T316N

c.947C>A

1 paper

NM_198904.4

p.T276A

c.826A>G

1 paper

NM_198904.4

p.I277T

c.830T>C

3 papers

NM_198904.4

p.Y274*

c.822C>A

3 papers

NM_198904.4

p.Y274*

c.822C>G

7 papers

NM_198904.4

p.Y274C

c.821A>G

1 paper

NM_198904.4

p.T279A

c.835A>G

2 papers

NM_198904.4

p.T279I

c.836C>T

2 papers

NM_198904.4

p.G273*

c.817G>T

2 papers

NM_198904.4

p.Y280D

c.838T>G

1 paper

NM_198904.4

p.Y280*

c.840T>A

1 paper

NM_198904.4

p.Y280*

c.840T>G