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

25 papers

NM_000814.6

p.Y302C

c.905A>G

Surrounding Variants

10 papers

NM_000814.6

p.P301L

c.902C>T

2 papers

NM_000814.6

p.P301S

c.901C>T

2 papers

NM_000814.6

p.P301A

c.901C>G

2 papers

NM_000814.6

p.K304E

c.910A>G

1 paper

NM_000814.6

p.K299_I300insFs

c.897_898insA

6 papers

NM_000814.6

p.I300T

c.899T>C

6 papers

NM_000814.6

p.K304R

c.911A>G

2 papers

NM_000814.6

p.I300V

c.898A>G

2 papers

NM_000814.6

p.I300L

c.898A>C

12 papers

NM_000814.6

p.A305T

c.913G>A

12 papers

NM_000814.6

p.A305V

c.914C>T

2 papers

NM_000814.6

p.A305D

c.914C>A