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.S35P

c.103T>C

Surrounding Variants

3 papers

NM_000814.6

p.S35T

c.103T>A

2 papers

NM_000814.6

p.M34I

c.102G>T

2 papers

NM_000814.6

p.M34I

c.102G>C

2 papers

NM_000814.6

p.M34I

c.102G>A

2 papers

NM_000814.6

p.S35F

c.104C>T

1 paper

NM_000814.6

p.S35C

c.104C>G

2 papers

NM_000814.6

p.S35Y

c.104C>A

1 paper

NM_000814.6

p.M34R

c.101T>G

2 papers

NM_000814.6

p.M34T

c.101T>C

2 papers

NM_000814.6

p.M34K

c.101T>A

1 paper

NM_000814.6

p.F36V

c.106T>G

2 papers

NM_000814.6

p.F36L

c.106T>C