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

1 paper

NM_000814.6

p.L170P

c.509T>C

Surrounding Variants

11 papers

NM_000814.6

p.L170R

c.509T>G

1 paper

NM_000814.6

p.L170Q

c.509T>A

2 papers

NM_000814.6

p.P169L

c.506C>T

2 papers

NM_000814.6

p.D171E

c.513C>G

2 papers

NM_000814.6

p.D171E

c.513C>A

3 papers

NM_000814.6

p.R166S

c.498G>T

3 papers

NM_000814.6

p.R166S

c.498G>C

1 paper

NM_000814.6

p.R166insFs

c.497_498insA

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.R166G

c.496A>G

1 paper

NM_000814.6

p.L165delFs

c.494_495delGA