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.F331I

c.991T>A

Surrounding Variants

6 papers

NM_000814.6

p.F331S

c.992T>C

3 papers

NM_000814.6

p.I330_F331del1

c.990_992delAAA

1 paper

NM_000814.6

p.I330_F331del2

c.988_992del6

2 papers

NM_000814.6

p.F332S

c.995T>C

2 papers

NM_000814.6

p.F331del1

c.991_992delGAA

2 papers

NM_000814.6

p.Y329H

c.985T>C

1 paper

NM_000814.6

p.F332del1

c.994_995delAAA

1 paper

NM_000814.6

p.G333fs

c.997_998fs

1 paper

NM_000814.6

p.G333delFs

c.998delC

12 papers

NM_000814.6

p.N328D

c.982A>G

2 papers

NM_000814.6

p.N328H

c.982A>C

1 paper

NM_000814.6

p.V327F

c.979G>T