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.L165delFs

c.494_495delGA

Surrounding Variants

2 papers

NM_000814.6

p.R166G

c.496A>G

1 paper

NM_000814.6

p.R166insFs

c.497_498insA

1 paper

NM_000814.6

p.L165delins

c.494_495delinsAA

3 papers

NM_000814.6

p.R166S

c.498G>T

3 papers

NM_000814.6

p.R166S

c.498G>C

2 papers

NM_000814.6

p.L165F

c.493C>T

1 paper

NM_000814.6

p.D164V

c.491A>T

2 papers

NM_000814.6

p.M163I

c.489G>T

2 papers

NM_000814.6

p.M163I

c.489G>C

3 papers

NM_000814.6

p.M163I

c.489G>A

1 paper

NM_000814.6

p.M163R

c.488T>G

4 papers

NM_000814.6

p.M163V

c.487A>G