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

3 papers

NM_000814.6

p.L310R

c.929T>G

Surrounding Variants

4 papers

NM_000814.6

p.L310I

c.928C>A

1 paper

NM_000814.6

p.M311R

c.932T>G

2 papers

NM_000814.6

p.M311T

c.932T>C

2 papers

NM_000814.6

p.M308R

c.923T>G

1 paper

NM_000814.6

p.M308T

c.923T>C

6 papers

NM_000814.6

p.I306T

c.917T>C

1 paper

NM_000814.6

p.F314F

c.942C>T

2 papers

NM_000814.6

p.I306V

c.916A>G

2 papers

NM_000814.6

p.V315I

c.943G>A

12 papers

NM_000814.6

p.A305V

c.914C>T

2 papers

NM_000814.6

p.A305D

c.914C>A

12 papers

NM_000814.6

p.A305T

c.913G>A