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.R294W

c.880C>T

Surrounding Variants

1 paper

NM_000814.6

p.R294L

c.881G>T

2 papers

NM_000814.6

p.R294P

c.881G>C

3 papers

NM_000814.6

p.R294Q

c.881G>A

2 papers

NM_000814.6

p.L293P

c.878T>C

7 papers

NM_000814.6

p.L293H

c.878T>A

1 paper

NM_000814.6

p.L293F

c.877C>T

1 paper

NM_000814.6

p.T291I

c.872C>T

1 paper

NM_000814.6

p.T291A

c.871A>G

2 papers

NM_000814.6

p.P298S

c.892C>T

3 papers

NM_000814.6

p.N290H

c.868A>C

2 papers

NM_000814.6

p.I289T

c.866T>C

4 papers

NM_000814.6

p.K299Q

c.895A>C