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.H132Y

c.394C>T

Surrounding Variants

2 papers

NM_000814.6

p.V131L

c.391G>T

2 papers

NM_000814.6

p.V131L

c.391G>C

2 papers

NM_000814.6

p.V131M

c.391G>A

1 paper

NM_000814.6

p.F130Y

c.389T>A

1 paper

NM_000814.6

p.F130I

c.388T>A

2 papers

NM_000814.6

p.V134M

c.400G>A

1 paper

NM_000814.6

p.V134A

c.401T>C

1 paper

NM_000814.6

p.S129T

c.385T>A

1 paper

NM_000814.6

p.T135A

c.403A>G

1 paper

NM_000814.6

p.K128M

c.383A>T

1 paper

NM_000814.6

p.V136M

c.406G>A

11 papers

NM_000814.6

p.K127R

c.380A>G