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

2 papers

NM_000814.6

p.D81V

c.242A>T

Surrounding Variants

2 papers

NM_000814.6

p.Y82C

c.245A>G

2 papers

NM_000814.6

p.Y82S

c.245A>C

1 paper

NM_000814.6

p.F88L

c.264T>A

2 papers

NM_000814.6

p.Y91F

c.272A>T

1 paper

NM_000814.6

p.Y91C

c.272A>G

5 papers

NM_000814.6

p.W92*

c.276G>A

1 paper

NM_000814.6

p.R93delFs

c.279delT

2 papers

NM_000814.6

p.D94E

c.282T>G

2 papers

NM_000814.6

p.D94E

c.282T>A

2 papers

NM_000814.6

p.K95R

c.284A>G

3 papers

NM_000814.6

p.R96S

c.288G>T

3 papers

NM_000814.6

p.R96S

c.288G>C