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.P31T

c.91C>A

Surrounding Variants

2 papers

NM_000814.6

p.P31S

c.91C>T

2 papers

NM_000814.6

p.P31A

c.91C>G

2 papers

NM_000814.6

p.D30E

c.90T>G

2 papers

NM_000814.6

p.D30E

c.90T>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.D30V

c.89A>T

2 papers

NM_000814.6

p.D30G

c.89A>G

2 papers

NM_000814.6

p.D30A

c.89A>C

2 papers

NM_000814.6

p.G32W

c.94G>T

2 papers

NM_000814.6

p.D30Y

c.88G>T