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

6 papers

NM_000814.6

p.F246S

c.737T>C

Surrounding Variants

1 paper

NM_000814.6

p.F246C

c.737T>G

1 paper

NM_000814.6

p.F246L

c.736T>C

1 paper

NM_000814.6

p.F246L

c.738C>G

1 paper

NM_000814.6

p.F246L

c.738C>A

1 paper

NM_000814.6

p.I247S

c.740T>G

3 papers

NM_000814.6

p.I247T

c.740T>C

7 papers

NM_000814.6

p.Y245H

c.733T>C

1 paper

NM_000814.6

p.L248I

c.742C>A

3 papers

NM_000814.6

p.G244E

c.731G>A

1 paper

NM_000814.6

p.I243_G244insFs

c.729_730insA

9 papers

NM_000814.6

p.Q249K

c.745C>A

3 papers

NM_000814.6

p.Q249H

c.747G>T