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.S254P

c.760T>C

Surrounding Variants

10 papers

NM_000814.6

p.S254F

c.761C>T

2 papers

NM_000814.6

p.S254Y

c.761C>A

10 papers

NM_000814.6

p.P253L

c.758C>T

2 papers

NM_000814.6

p.P253H

c.758C>A

4 papers

NM_000814.6

p.P253S

c.757C>T

2 papers

NM_000814.6

p.P253T

c.757C>A

1 paper

NM_000814.6

p.I255V

c.763A>G

2 papers

NM_000814.6

p.M252I

c.756G>T

2 papers

NM_000814.6

p.M252I

c.756G>C

3 papers

NM_000814.6

p.M252I

c.756G>A

3 papers

NM_000814.6

p.L256V

c.766C>G

1 paper

NM_000814.6

p.Y251*

c.753T>G