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gene: ADRA2B

id151
symbolADRA2B
organismHomo sapiens
full nameadrenoceptor alpha 2B
summaryThis intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014]
variant-disease

NM_000682.7(ADRA2B):c.675_686delinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg) AND Epilepsy, familial adult myoclonic 2

NM_000682.7(ADRA2B):c.695C>G (p.Ala232Gly) AND not provided

NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter) AND not provided

NM_000682.7(ADRA2B):c.276C>G (p.Asp92Glu) AND not provided

GRCh37/hg19 2q11.1-11.2(chr2:96778661-97757978)x3 AND See cases

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