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

4 papers

NM_000814.6

p.R238Q

c.713G>A

Surrounding Variants

5 papers

NM_000814.6

p.R238W

c.712C>T

1 paper

NM_000814.6

p.K240K

c.720G>A

1 paper

NM_000814.6

p.A229_K240del12

c.685_719del36

1 paper

NM_000814.6

p.L235P

c.704T>C

2 papers

NM_000814.6

p.S234L

c.701C>T

1 paper

NM_000814.6

p.N242I

c.725A>T

1 paper

NM_000814.6

p.I243_G244insFs

c.729_730insA

5 papers

NM_000814.6

p.R232P

c.695G>C

14 papers

NM_000814.6

p.R232Q

c.695G>A

3 papers

NM_000814.6

p.G244E

c.731G>A

6 papers

NM_000814.6

p.R232*

c.694C>T

7 papers

NM_000814.6

p.Y245H

c.733T>C