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.I321T

c.962T>C

Surrounding Variants

1 paper

NM_198904.4

p.I321F

c.961A>T

4 papers

NM_198904.4

p.A322T

c.964G>A

17 papers

NM_198904.4

p.A322D

c.965C>A

2 papers

NM_198904.4

p.R323G

c.967C>G

18 papers

NM_198904.4

p.R323W

c.967C>T

NM_001375343.1

p.R363W

c.1087C>T

27 papers

NM_198904.4

p.R323Q

c.968G>A

NM_001375343.1

p.R363Q

c.1088G>A

1 paper

NM_198904.4

p.K324delFs

c.972delA

2 papers

NM_198904.4

p.K324E

c.970A>G

1 paper

NM_198904.4

p.L318H

c.953T>A

2 papers

NM_198904.4

p.L318V

c.952C>G

7 papers

NM_198904.4

p.T317N

c.950C>A

NM_198903.2

p.T357N

c.1070C>A

2 papers

NM_198904.4

p.T317S

c.950C>G