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.S264F

c.791C>T

Surrounding Variants

1 paper

NM_000814.6

p.V263M

c.787G>A

1 paper

NM_000814.6

p.W262*

c.786G>A

1 paper

NM_000814.6

p.W262*

c.785G>A

2 papers

NM_000814.6

p.I267V

c.799A>G

2 papers

NM_000814.6

p.N268S

c.803A>G

3 papers

NM_000814.6

p.N268K

c.804T>G

3 papers

NM_000814.6

p.N268K

c.804T>A

2 papers

NM_000814.6

p.L260V

c.778C>G

1 paper

NM_000814.6

p.L260M

c.778C>A

2 papers

NM_000814.6

p.D270G

c.809A>G

2 papers

NM_000814.6

p.I257M

c.771A>G

16 papers

NM_000814.6

p.L256Q

c.767T>A