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

57 papers

NM_198904.4

p.R82Q

c.245G>A

Surrounding Variants

3 papers

NM_198904.4

p.R82W

c.244C>T

4 papers

NM_198904.4

p.P83T

c.247C>A

23 papers

NM_198904.4

p.P83S

c.247C>T

3 papers

NM_198904.4

p.P83L

c.248C>T

1 paper

NM_198904.4

p.L81P

c.242T>C

2 papers

NM_198904.4

p.L81F

c.241C>T

2 papers

NM_198904.4

p.P83P

c.249T>A

1 paper

NM_198904.4

p.D84H

c.250G>C

1 paper

NM_198904.4

p.D84V

c.251A>T

1 paper

NM_198904.4

p.K80E

c.238A>G

1 paper

NM_198904.4

p.I85V

c.253A>G

12 papers

NM_198904.4

p.N79S

c.236A>G