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

37 papers

NM_000814.6

p.G32R

c.94G>C

Surrounding Variants

2 papers

NM_000814.6

p.G32W

c.94G>T

37 papers

NM_000814.6

p.G32R

c.94G>A

1 paper

NM_000814.6

p.G32V

c.95G>T

2 papers

NM_000814.6

p.G32A

c.95G>C

3 papers

NM_000814.6

p.G32E

c.95G>A

1 paper

NM_000814.6

p.P31L

c.92C>T

2 papers

NM_000814.6

p.P31R

c.92C>G

2 papers

NM_000814.6

p.P31H

c.92C>A

2 papers

NM_000814.6

p.P31S

c.91C>T

2 papers

NM_000814.6

p.P31A

c.91C>G

1 paper

NM_000814.6

p.P31T

c.91C>A

2 papers

NM_000814.6

p.N33Y

c.97A>T