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

9 papers

NM_000814.6

p.L124F

c.372A>C

Surrounding Variants

9 papers

NM_000814.6

p.L124F

c.372A>T

1 paper

NM_000814.6

p.L124I

c.370T>A

2 papers

NM_000814.6

p.K127E

c.379A>G

1 paper

NM_000814.6

p.Y122C

c.365A>G

11 papers

NM_000814.6

p.K127R

c.380A>G

1 paper

NM_000814.6

p.T121T

c.363A>T

1 paper

NM_000814.6

p.K128M

c.383A>T

1 paper

NM_000814.6

p.S129T

c.385T>A

28 papers

NM_000814.6

p.D120N

c.358G>A

1 paper

NM_000814.6

p.F130I

c.388T>A

1 paper

NM_000814.6

p.F130Y

c.389T>A

1 paper

NM_000814.6

p.V118A

c.353T>C