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

Selected Variant

12 papers

NM_000814.6

p.E180G

c.539A>G

Surrounding Variants

1 paper

NM_000814.6

p.E180K

c.538G>A

1 paper

NM_000814.6

p.Y182H

c.544T>C

2 papers

NM_000814.6

p.E178D

c.534A>T

2 papers

NM_000814.6

p.E178D

c.534A>C

2 papers

NM_000814.6

p.E178G

c.533A>G

1 paper

NM_000814.6

p.L177V

c.529C>G

2 papers

NM_000814.6

p.C175W

c.525C>G

2 papers

NM_000814.6

p.N174K

c.522C>G

2 papers

NM_000814.6

p.N174K

c.522C>A

2 papers

NM_000814.6

p.D171E

c.513C>G

2 papers

NM_000814.6

p.D171E

c.513C>A

11 papers

NM_000814.6

p.L170R

c.509T>G