rs368173040

This variant is located in the GABBR2 gene.

ClinVar annotation

Benign☆☆☆
1 submitter1 publication

Epileptic encephalopathy

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About GABBR2

The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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