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

1–12 of 857 variants

57 papers

NM_198904.4

p.R82Q

c.245G>A

37 papers

NM_198904.4

p.Q40*

c.118C>T

33 papers

NM_198904.4

p.K328M

c.983A>T

32 papers

NM_198904.4

p.A106T

c.316G>A

32 papers

NM_198904.4

p.R177G

c.529C>G

30 papers

NM_198904.4

p.N196N

c.588C>T

27 papers

NM_198904.4

p.R323Q

c.968G>A

26 papers

NM_198904.4

p.G257Splc

c.769+2T>G

25 papers

NM_198904.4

p.R136*

c.406C>T

23 papers

NM_198904.4

p.P83S

c.247C>T

18 papers

NM_198904.4

p.P282S

c.844C>T

17 papers

NM_198904.4

p.A322D

c.965C>A