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.C161S

c.481T>A

Surrounding Variants

2 papers

NM_000814.6

p.C161S

c.482G>C

2 papers

NM_000814.6

p.A160V

c.479C>T

2 papers

NM_000814.6

p.A160E

c.479C>A

1 paper

NM_000814.6

p.A160_C161insACC

c.478_482ins9

2 papers

NM_000814.6

p.M162R

c.485T>G

5 papers

NM_000814.6

p.M162T

c.485T>C

2 papers

NM_000814.6

p.M162I

c.486G>T

2 papers

NM_000814.6

p.M162I

c.486G>C

2 papers

NM_000814.6

p.M162I

c.486G>A

4 papers

NM_000814.6

p.A159S

c.475G>T

4 papers

NM_000814.6

p.M163V

c.487A>G

1 paper

NM_000814.6

p.M163R

c.488T>G