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.S27R

c.81T>G

Surrounding Variants

2 papers

NM_000814.6

p.S27R

c.81T>A

2 papers

NM_000814.6

p.V28L

c.82G>T

2 papers

NM_000814.6

p.S27Splc

c.81-1G>T

2 papers

NM_000814.6

p.V28L

c.82G>C

2 papers

NM_000814.6

p.S27T

c.80G>C

4 papers

NM_000814.6

p.S27Splc

c.81-1G>A

2 papers

NM_000814.6

p.V28M

c.82G>A

1 paper

NM_000814.6

p.V28G

c.83T>G

2 papers

NM_000814.6

p.V28A

c.83T>C

2 papers

NM_000814.6

p.V28E

c.83T>A

1 paper

NM_000814.6

p.S27G

c.79A>G

2 papers

NM_000814.6

p.S27R

c.79A>C