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.F36L

c.108T>G

Surrounding Variants

2 papers

NM_000814.6

p.F36L

c.108T>A

2 papers

NM_000814.6

p.F36C

c.107T>G

2 papers

NM_000814.6

p.F36S

c.107T>C

2 papers

NM_000814.6

p.F36Y

c.107T>A

2 papers

NM_000814.6

p.V37L

c.109G>T

2 papers

NM_000814.6

p.V37L

c.109G>C

1 paper

NM_000814.6

p.V37M

c.109G>A

7 papers

NM_000814.6

p.V37G

c.110T>G

1 paper

NM_000814.6

p.F36V

c.106T>G

2 papers

NM_000814.6

p.F36L

c.106T>C

1 paper

NM_000814.6

p.V37A

c.110T>C

2 papers

NM_000814.6

p.V37E

c.110T>A