ADCY6

adenylate cyclase 6

Summary

This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]

Known Variants121 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs149764790	12:49,162,393	T/A	—	uncertain significance
rs765207297	12:49,162,402	T/C	—	uncertain significance
rs1171518382	12:49,162,469	C/T	—	uncertain significance
rs7300155	12:49,162,598	G/A	—	benign
rs577089201	12:49,162,738	C/T	—	likely benign
rs786204798	12:49,162,755	G/A	missense variant	pathogenic
rs73296123	12:49,162,810	G/A	—	benign
rs78519542	12:49,164,482	G/A	—	benign
rs140931660	12:49,164,567	T/A	—	uncertain significance
rs778436011	12:49,164,612	G/A	—	uncertain significance
rs372946297	12:49,164,619	G/A	—	likely benign
rs1470069908	12:49,164,627	C/G	—	uncertain significance
rs1015828855	12:49,164,652	C/T	—	likely benign
rs1592154392	12:49,164,762	C/T	—	likely benign
rs9804777	12:49,164,825	C/T	—	benign
rs3729972	12:49,165,405	C/T	—	benign
rs1941551290	12:49,165,537	C/T	—	pathogenic
rs879253864	12:49,165,569	T/C	missense variant	pathogenic
rs2498528245	12:49,165,621	A/G	—	uncertain significance
rs2498528371	12:49,165,630	A/T	—	uncertain significance
rs760633041	12:49,165,647	C/T	—	uncertain significance
rs143958339	12:49,165,650	C/T	—	likely benign
rs1367267802	12:49,165,678	C/T	—	uncertain significance
rs2137339338	12:49,165,711	G/C	—	uncertain significance
rs200640184	12:49,165,751	T/C	—	likely benign
rs1302799973	12:49,166,131	G/A	—	uncertain significance
rs140769009	12:49,166,197	C/T	—	uncertain significance
rs2498535465	12:49,166,314	A/C	—	uncertain significance
rs1941579124	12:49,166,316	T/C	—	uncertain significance
rs73296126	12:49,166,481	G/T	—	benign
rs3729969	12:49,167,143	T/A	—	benign
rs3729980	12:49,167,202	A/C	—	benign
rs3730074	12:49,167,683	C/A	—	benign
rs1226659148	12:49,167,748	G/A	—	uncertain significance
rs748915043	12:49,167,842	G/A	—	uncertain significance
rs3730072	12:49,168,128	G/C	—	benign
rs115957272	12:49,168,221	G/A	—	benign
rs773761749	12:49,168,271	G/A	—	uncertain significance
rs199749505	12:49,168,280	G/A	—	uncertain significance
rs77913913	12:49,168,789	G/T	—	benign
rs2498555920	12:49,168,791	G/A	—	uncertain significance
rs1027015326	12:49,168,792	C/T	—	uncertain significance
rs3730071	12:49,168,798	C/A	—	benign
rs200084328	12:49,168,819	G/T	—	uncertain significance
rs3730070	12:49,168,848	G/C	—	benign
rs777518889	12:49,169,129	C/T	—	uncertain significance
rs144695278	12:49,169,131	C/T	—	likely benign
rs760880369	12:49,169,149	C/A	—	uncertain significance
rs148503142	12:49,169,162	C/T	—	uncertain significance
rs753167955	12:49,169,172	T/C	—	uncertain significance
rs3730069	12:49,169,262	T/A	—	benign
rs373440769	12:49,169,778	G/A	—	uncertain significance
rs2498567080	12:49,169,808	G/C	—	uncertain significance
rs56168017	12:49,169,841	G/A	—	uncertain significance
rs1441071275	12:49,169,852	G/A	—	uncertain significance
rs144153450	12:49,169,860	G/A	—	benign
rs1197905031	12:49,169,874	T/C	—	uncertain significance
rs199844372	12:49,169,878	T/C	—	benign
rs547924399	12:49,169,880	C/T	—	likely benign
rs143114060	12:49,170,029	A/G	—	benign
rs146870636	12:49,170,056	C/T	—	uncertain significance
rs1941705738	12:49,170,210	C/T	—	pathogenic
rs1335782692	12:49,170,235	T/C	—	uncertain significance
rs369149680	12:49,170,283	C/T	—	uncertain significance
rs2498571818	12:49,170,304	T/C	—	uncertain significance
rs3730068	12:49,170,309	G/A	—	benign
rs778527060	12:49,170,315	G/A	—	likely benign
rs747782381	12:49,170,321	G/A	—	likely benign
rs3730067	12:49,170,336	G/A	—	benign
rs3730066	12:49,170,425	C/T	—	benign
rs11168733	12:49,170,719	A/G	—	benign
rs201102889	12:49,170,930	G/T	—	conflicting classifications of pathogenicity
rs147469347	12:49,170,952	C/A	—	benign
rs1592160780	12:49,171,202	C/T	—	likely benign
rs1486504667	12:49,171,203	T/C	—	uncertain significance
rs541746900	12:49,171,502	C/T	—	likely benign
rs1941741272	12:49,171,507	G/C	—	uncertain significance
rs78044067	12:49,171,790	T/C	—	benign
rs2498586581	12:49,171,970	A/G	—	uncertain significance
rs1941756326	12:49,171,977	C/T	—	uncertain significance
rs1592161551	12:49,172,044	C/A	—	likely benign
rs117201145	12:49,172,319	C/T	—	benign
rs1242330299	12:49,176,366	G/A	—	likely benign
rs2498610339	12:49,176,403	A/G	—	uncertain significance
rs774225754	12:49,176,452	G/A	—	uncertain significance
rs1941876042	12:49,176,490	A/C	—	uncertain significance
rs200593680	12:49,176,503	G/C	—	uncertain significance
rs145846390	12:49,176,507	C/T	—	benign
rs756705285	12:49,176,512	A/G	—	uncertain significance
rs778731790	12:49,176,523	G/A	—	uncertain significance
rs1322398514	12:49,176,536	G/C	—	uncertain significance
rs1418492011	12:49,176,539	C/T	—	uncertain significance
rs374675749	12:49,176,540	G/A	—	likely benign
rs3730064	12:49,176,582	A/G	—	benign
rs2498614478	12:49,176,698	C/T	—	conflicting classifications of pathogenicity
rs561521194	12:49,176,699	G/C	—	likely benign
rs547090207	12:49,176,747	C/G	—	likely benign
rs763610280	12:49,176,772	T/C	—	uncertain significance
rs1371497630	12:49,176,781	T/C	—	uncertain significance
rs1466776066	12:49,176,847	T/C	—	uncertain significance

Showing 100 of 121 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.