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.D49N

c.145G>A

Surrounding Variants

2 papers

NM_000814.6

p.D49G

c.146A>G

2 papers

NM_000814.6

p.D49E

c.147C>G

2 papers

NM_000814.6

p.D49E

c.147C>A

2 papers

NM_000814.6

p.Y48C

c.143A>G

2 papers

NM_000814.6

p.R51G

c.151C>G

5 papers

NM_000814.6

p.L52V

c.154C>G

1 paper

NM_000814.6

p.K46E

c.136A>G

2 papers

NM_000814.6

p.K46Q

c.136A>C

1 paper

NM_000814.6

p.P54ins1

c.160_161insACC

3 papers

NM_000814.6

p.P54L

c.161C>T

2 papers

NM_000814.6

p.K43R

c.128A>G

3 papers

NM_000814.6

p.D42E

c.126C>G