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

5 papers

NM_000814.6

p.R111*

c.331C>T

Surrounding Variants

2 papers

NM_000814.6

p.R111Q

c.332G>A

1 paper

NM_000814.6

p.N110_R111delFs

c.330_331delGA

3 papers

NM_000814.6

p.N110S

c.329A>G

19 papers

NM_000814.6

p.N110D

c.328A>G

2 papers

NM_000814.6

p.V112E

c.335T>A

2 papers

NM_000814.6

p.D109G

c.326A>G

2 papers

NM_000814.6

p.T107M

c.320C>T

3 papers

NM_000814.6

p.Q115*

c.343C>T

1 paper

NM_000814.6

p.T107S

c.319A>T

2 papers

NM_000814.6

p.L116V

c.346C>G

2 papers

NM_000814.6

p.L116R

c.347T>G

1 paper

NM_000814.6

p.L116P

c.347T>C