Varaico: Literature-Extracted Genetic Variants

GABRB3

314 papers

RefSeq Summary

This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid...

Pfam Domains

Neur_chan_LBDaa 37–243UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 250–468UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit beta3

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, beta 3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 771 variants

37 papers

NM_000814.6

p.G32R

c.94G>C

37 papers

NM_000814.6

p.G32R

c.94G>A

28 papers

NM_000814.6

p.D120N

c.358G>A

25 papers

NM_000814.6

p.Y302C

c.905A>G

19 papers

NM_000814.6

p.N110D

c.328A>G

16 papers

NM_000814.6

p.L256Q

c.767T>A

14 papers

NM_000814.6

p.R232Q

c.695G>A

14 papers

NM_000814.6

p.T287I

c.860C>T

13 papers

NM_000814.6

p.T281A

c.841A>G

12 papers

NM_000814.6

p.E180G

c.539A>G

12 papers

NM_000814.6

p.A305T

c.913G>A

12 papers

NM_000814.6

p.A305V

c.914C>T