Gene: ADAR

Alternate names for this Gene: ADAR1|AGS6|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88DSRBP|P136

Gene Summary: This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.3

Description of this Gene: adenosine deaminase RNA specific

Type of Gene: protein-coding

Gene: CHRNB2

Alternate names for this Gene: EFNL3|nAChRB2

Gene Summary: Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.3

Description of this Gene: cholinergic receptor nicotinic beta 2 subunit

Type of Gene: protein-coding

rs1127311 in ADAR;CHRNB2 gene and C-reactive protein measurement PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

rs9616 in ADAR;CHRNB2 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1127311 in ADAR;CHRNB2 gene and Triglycerides measurement PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.