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.P145L

c.434C>T

Surrounding Variants

2 papers

NM_000814.6

p.P145R

c.434C>G

2 papers

NM_000814.6

p.D146A

c.437A>C

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.V149M

c.445G>A

1 paper

NM_000814.6

p.L150R

c.449T>G

2 papers

NM_000814.6

p.M140V

c.418A>G

2 papers

NM_000814.6

p.M140insFs

c.418_419insG

1 paper

NM_000814.6

p.R139R

c.417C>T

6 papers

NM_000814.6

p.N138_R139ins0

c.413_415dupACC