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.V136M

c.406G>A

Surrounding Variants

1 paper

NM_000814.6

p.K137E

c.409A>G

1 paper

NM_000814.6

p.T135A

c.403A>G

1 paper

NM_000814.6

p.V134A

c.401T>C

2 papers

NM_000814.6

p.V134M

c.400G>A

2 papers

NM_000814.6

p.N138T

c.413A>C

1 paper

NM_000814.6

p.N138K

c.414C>G

1 paper

NM_000814.6

p.N138K

c.414C>A

2 papers

NM_000814.6

p.R139C

c.415C>T

1 paper

NM_000814.6

p.R139G

c.415C>G

6 papers

NM_000814.6

p.N138_R139ins0

c.413_415dupACC

3 papers

NM_000814.6

p.R139H

c.416G>A

1 paper

NM_000814.6

p.R139R

c.417C>T