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

3 papers

NM_198904.4

p.S306Y

c.917C>A

Surrounding Variants

9 papers

NM_198904.4

p.S306F

c.917C>T

7 papers

NM_198904.4

p.L307V

c.919T>G

1 paper

NM_198904.4

p.T305I

c.914C>T

5 papers

NM_198904.4

p.R304K

c.911G>A

2 papers

NM_198904.4

p.G308D

c.923G>A

3 papers

NM_198904.4

p.G308Splc

c.922+1G>T

1 paper

NM_198904.4

p.A303A

c.909C>T

5 papers

NM_198904.4

p.A303T

c.907G>A

14 papers

NM_198904.4

p.P302L

c.905C>T

NM_198903.2

p.P342L

c.1025C>T

1 paper

NM_198904.4

p.V301I

c.901G>A

2 papers

NM_198904.4

p.A300D

c.899C>A

1 paper

NM_198904.4

p.A300V

c.899C>T