PDE1C

phosphodiesterase 1C

Summary

This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]

Known Variants132 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs778260273	7:31,793,057	C/T	—	likely benign
rs368406121	7:31,793,067	G/T	—	likely pathogenic
rs758777524	7:31,793,127	G/A	—	likely benign
rs148606596	7:31,793,149	C/T	—	benign
rs116123743	7:31,793,290	T/G	—	benign
rs79948907	7:31,815,285	C/G	—	benign
rs763436818	7:31,815,297	C/T	—	likely benign
rs74905175	7:31,815,326	C/T	—	benign
rs192039751	7:31,815,334	C/T	—	likely benign
rs2534865414	7:31,815,338	G/A	—	likely pathogenic
rs982857	7:31,830,095	A/G	—	benign
rs752243504	7:31,848,648	C/A	—	uncertain significance
rs1380910456	7:31,848,650	G/A	—	uncertain significance
rs141060048	7:31,848,670	G/A	—	likely benign
rs143271832	7:31,848,681	G/A	—	uncertain significance
rs979937345	7:31,848,693	C/T	—	uncertain significance
rs748217658	7:31,848,701	T/C	—	uncertain significance
rs3213709	7:31,848,706	G/A	—	benign
rs113385926	7:31,848,763	T/C	—	benign
rs73319150	7:31,855,395	A/G	—	benign
rs1860789	7:31,855,420	A/G	—	benign
rs2302450	7:31,855,569	A/G	—	benign
rs2230175	7:31,855,577	A/C	—	likely benign
rs1860790	7:31,855,578	G/A	—	benign
rs779967856	7:31,855,592	G/T	—	uncertain significance
rs773975463	7:31,855,612	C/T	—	uncertain significance
rs761230935	7:31,855,613	G/A	—	uncertain significance
rs61736729	7:31,855,625	C/G	—	likely benign
rs144853377	7:31,855,674	G/A	—	likely benign
rs770568107	7:31,855,690	C/T	—	uncertain significance
rs763240629	7:31,855,697	C/T	—	uncertain significance
rs143433782	7:31,855,736	C/A	—	uncertain significance
rs59187276	7:31,862,574	G/A	—	benign
rs776750071	7:31,862,699	T/C	—	uncertain significance
rs61745829	7:31,862,756	T/C	—	benign
rs544154041	7:31,862,774	T/C	—	likely benign
rs372917246	7:31,862,810	C/T	—	uncertain significance
rs191145475	7:31,862,901	T/C	—	benign
rs2072427	7:31,863,023	G/A	—	benign
rs182187841	7:31,867,902	G/A	—	likely benign
rs17160591	7:31,868,064	G/A	—	benign
rs71532998	7:31,876,562	T/C	—	benign
rs2270218	7:31,876,766	T/C	—	benign
rs535067434	7:31,876,831	C/T	—	uncertain significance
rs1791235075	7:31,876,891	G/C	—	uncertain significance
rs2270219	7:31,877,261	A/G	—	benign
rs770106484	7:31,877,490	G/A	—	uncertain significance
rs775909832	7:31,877,495	C/A	—	uncertain significance
rs1792851728	7:31,887,680	T/G	—	uncertain significance
rs2072430	7:31,890,104	G/A	—	benign
rs917756	7:31,890,106	T/C	—	benign
rs775633137	7:31,890,328	C/A	—	pathogenic
rs372174098	7:31,890,335	C/G	—	uncertain significance
rs2270221	7:31,904,027	C/T	intron variant	—
rs2072425	7:31,904,343	G/A	—	benign
rs61736721	7:31,904,598	A/G	—	benign
rs61734907	7:31,904,610	G/A	—	benign
rs2302451	7:31,912,793	C/T	—	benign
rs2536080118	7:31,912,955	A/C	—	uncertain significance
rs76290787	7:31,912,989	G/A	—	likely benign
rs746804294	7:31,913,018	C/T	—	uncertain significance
rs368183746	7:31,917,625	C/G	—	uncertain significance
rs74518056	7:31,918,452	T/C	—	benign
rs374334951	7:31,918,659	G/C	—	likely benign
rs115957738	7:31,918,668	G/A	—	benign
rs61745788	7:31,918,689	C/A	—	benign
rs193921048	7:31,918,699	C/T	—	uncertain significance
rs1860786	7:31,918,879	T/C	—	benign
rs1860787	7:31,918,917	C/A	—	benign
rs61729940	7:31,920,395	G/A	—	benign
rs183887809	7:31,920,430	C/G	—	uncertain significance
rs1208305226	7:31,920,465	G/T	—	uncertain significance
rs775258741	7:31,920,468	C/T	—	uncertain significance
rs200746769	7:31,920,469	G/A	—	uncertain significance
rs73690312	7:31,920,574	A/G	—	benign
rs2072182	7:32,091,215	A/T	—	benign
rs77387054	7:32,101,297	G/A	intron variant	—
rs30593	7:32,105,096	T/C	intron variant	—
rs78124500	7:32,110,008	C/T	—	benign
rs30598	7:32,110,115	C/G	—	benign
rs79798026	7:32,110,502	G/T	—	benign
rs11763396	7:32,110,514	G/C	—	benign
rs3793246	7:32,113,498	A/C	—	—
rs571008725	7:32,120,211	T/C	—	—
rs779264595	7:32,133,920	C/T	—	—
rs11975235	7:32,189,540	A/T	—	—
rs12701178	7:32,209,193	G/A	—	benign
rs977623	7:32,209,227	A/C	—	benign
rs977624	7:32,209,283	T/C	—	benign
rs758318	7:32,209,359	A/G	—	benign
rs2072312	7:32,209,376	T/C	—	benign
rs60578446	7:32,209,426	G/A	—	benign
rs190821640	7:32,209,441	C/A	—	uncertain significance
rs2535739307	7:32,209,446	C/G	—	uncertain significance
rs977626	7:32,209,459	C/T	—	benign
rs368323356	7:32,209,477	G/T	—	uncertain significance
rs181999335	7:32,209,545	A/T	—	likely benign
rs10486503	7:32,248,910	T/G	—	benign
rs10951324	7:32,248,984	G/A	—	benign
rs144714011	7:32,249,110	G/A	—	likely benign

Showing 100 of 132 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.