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

2 papers

NM_000814.6

p.N33T

c.98A>C

Surrounding Variants

2 papers

NM_000814.6

p.N33I

c.98A>T

2 papers

NM_000814.6

p.N33S

c.98A>G

2 papers

NM_000814.6

p.N33K

c.99C>G

2 papers

NM_000814.6

p.N33K

c.99C>A

2 papers

NM_000814.6

p.N33Y

c.97A>T

2 papers

NM_000814.6

p.N33D

c.97A>G

2 papers

NM_000814.6

p.N33H

c.97A>C

2 papers

NM_000814.6

p.M34L

c.100A>T

2 papers

NM_000814.6

p.M34V

c.100A>G

2 papers

NM_000814.6

p.M34L

c.100A>C

1 paper

NM_000814.6

p.M34R

c.101T>G

2 papers

NM_000814.6

p.M34T

c.101T>C