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.L150R

c.449T>G

Surrounding Variants

2 papers

NM_000814.6

p.Y151C

c.452A>G

1 paper

NM_000814.6

p.Y151*

c.453T>A

2 papers

NM_000814.6

p.V149M

c.445G>A

2 papers

NM_000814.6

p.L153P

c.458T>C

2 papers

NM_000814.6

p.D146A

c.437A>C

1 paper

NM_000814.6

p.P145L

c.434C>T

2 papers

NM_000814.6

p.P145R

c.434C>G

3 papers

NM_000814.6

p.L143R

c.428T>G

5 papers

NM_000814.6

p.R142L

c.425G>T

2 papers

NM_000814.6

p.R142H

c.425G>A

2 papers

NM_000814.6

p.R142C

c.424C>T

2 papers

NM_000814.6

p.M140V

c.418A>G