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.Q339insFs

c.1015_1016insT

Surrounding Variants

1 paper

NM_000814.6

p.Q339fs

c.1015_1016fs

2 papers

NM_000814.6

p.K340R

c.1019A>G

3 papers

NM_000814.6

p.K341Q

c.1021A>C

1 paper

NM_000814.6

p.P336L

c.1007C>T

3 papers

NM_000814.6

p.P336S

c.1006C>T

2 papers

NM_000814.6

p.E344K

c.1030G>A

1 paper

NM_000814.6

p.G333delFs

c.998delC

1 paper

NM_000814.6

p.F332del1

c.994_995delAAA

2 papers

NM_000814.6

p.K345E

c.1033A>G

1 paper

NM_000814.6

p.G333fs

c.997_998fs

2 papers

NM_000814.6

p.F331del1

c.991_992delGAA

2 papers

NM_000814.6

p.F332S

c.995T>C