PER3

period circadian regulator 3

Summary

This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]

Known Variants138 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs571084788	1:7,843,711	T/C	—	—
rs547192999	1:7,844,972	G/T	—	uncertain significance
rs41278956	1:7,844,989	G/T	—	likely benign
rs767862865	1:7,845,030	C/A	—	uncertain significance
rs1577590526	1:7,845,497	C/T	—	likely benign
rs2524417481	1:7,845,543	G/C	—	uncertain significance
rs2301491	1:7,845,567	C/T	—	benign
rs375818157	1:7,845,570	C/G	—	uncertain significance
rs779069466	1:7,845,575	C/T	—	uncertain significance
rs369440957	1:7,845,604	G/C	—	uncertain significance
rs767393608	1:7,845,614	A/G	—	uncertain significance
rs374148482	1:7,845,625	C/T	—	uncertain significance
rs228729	1:7,845,695	T/C	downstream gene variant	—
rs182687404	1:7,846,772	G/A	—	likely benign
rs993183058	1:7,846,867	A/G	—	uncertain significance
rs200696656	1:7,846,870	G/A	—	uncertain significance
rs228727	1:7,847,836	T/A	—	—
rs1225996116	1:7,848,153	A/G	—	likely benign
rs925352263	1:7,848,169	C/T	—	uncertain significance
rs549704202	1:7,848,184	G/A	—	uncertain significance
rs150199185	1:7,848,202	C/T	—	uncertain significance
rs191955069	1:7,848,203	G/A	—	likely benign
rs150445246	1:7,848,256	C/T	—	uncertain significance
rs228726	1:7,848,943	G/A	intron variant	—
rs2097133509	1:7,854,029	A/C	—	uncertain significance
rs1045822042	1:7,854,044	T/G	—	uncertain significance
rs228682	1:7,856,346	T/C	intron variant	—
rs61773374	1:7,858,108	A/T	—	—
rs1012477	1:7,858,135	G/C	intron variant	—
rs201106401	1:7,858,622	C/G	—	uncertain significance
rs761633623	1:7,858,637	C/G	—	uncertain significance
rs1378266956	1:7,858,697	C/G	—	uncertain significance
rs756740995	1:7,861,175	C/T	—	uncertain significance
rs1282772213	1:7,861,185	C/T	—	uncertain significance
rs707467	1:7,861,684	A/C	intron variant	—
rs748357327	1:7,863,133	C/T	—	uncertain significance
rs140044547	1:7,863,152	A/G	—	likely benign
rs228642	1:7,863,293	C/T	intron variant	—
rs1025330907	1:7,863,823	A/G	—	likely benign
rs199945897	1:7,863,892	C/T	—	uncertain significance
rs228644	1:7,866,083	G/A	downstream gene variant	—
rs146003548	1:7,868,328	G/A	—	—
rs2525415199	1:7,868,969	G/A	—	uncertain significance
rs150812083	1:7,869,953	C/G	missense variant	pathogenic
rs139315125	1:7,869,960	A/G	missense variant	pathogenic
rs35426314	1:7,869,968	G/A	—	benign
rs768056701	1:7,870,028	G/A	—	uncertain significance
rs228669	1:7,870,048	T/C	synonymous variant	—
rs752096334	1:7,870,068	C/T	—	uncertain significance
rs147799707	1:7,870,517	A/G	—	likely benign
rs143456316	1:7,870,563	T/C	—	likely benign
rs140689946	1:7,870,570	A/G	—	uncertain significance
rs374360462	1:7,870,583	C/T	—	uncertain significance
rs764827981	1:7,870,589	A/C	—	uncertain significance
rs377679954	1:7,870,607	G/A	—	uncertain significance
rs562959657	1:7,870,619	A/G	—	uncertain significance
rs777226760	1:7,870,637	C/T	—	likely benign
rs12137927	1:7,871,229	T/C	intron variant	—
rs57875989	1:7,876,284	G/A	coding sequence variant	—
rs186648500	1:7,877,375	G/T	intron variant	—
rs2797685	1:7,879,063	C/G	—	—
rs148098385	1:7,879,396	T/C	—	uncertain significance
rs147327372	1:7,879,401	A/G	—	likely benign
rs747268911	1:7,879,416	G/T	—	uncertain significance
rs754230207	1:7,879,451	A/G	—	likely benign
rs200862765	1:7,880,231	A/C	—	uncertain significance
rs1558445239	1:7,880,236	A/G	—	uncertain significance
rs17031601	1:7,880,585	A/T	—	benign
rs765289714	1:7,880,621	G/A	—	likely benign
rs10462020	1:7,880,683	T/G	missense variant	likely benign
rs182027064	1:7,883,059	T/G	intron variant	—
rs61773390	1:7,884,525	G/T	intron variant	—
rs749576891	1:7,886,620	G/A	—	uncertain significance
rs139494306	1:7,886,705	C/T	—	uncertain significance
rs150960403	1:7,886,750	C/T	—	likely benign
rs189355347	1:7,886,784	T/A	regulatory region variant	—
rs1310572928	1:7,887,217	G/A	—	likely benign
rs762732289	1:7,887,223	G/A	—	uncertain significance
rs35687686	1:7,887,234	C/T	—	benign
rs1211847833	1:7,887,241	A/G	—	uncertain significance
rs2859387	1:7,887,248	G/A	—	benign
rs140974114	1:7,887,262	G/A	—	likely benign
rs1438613242	1:7,887,267	A/G	—	uncertain significance
rs139934930	1:7,887,271	C/T	missense variant	uncertain significance
rs2526385694	1:7,887,280	G/T	—	uncertain significance
rs556093537	1:7,887,288	C/T	—	conflicting classifications of pathogenicity
rs147126058	1:7,887,301	C/T	—	uncertain significance
rs149617070	1:7,887,304	A/G	—	likely benign
rs746538221	1:7,887,355	C/T	—	likely benign
rs1309105133	1:7,887,400	C/T	—	uncertain significance
rs35733104	1:7,887,404	C/T	—	benign
rs770356226	1:7,887,421	C/T	—	uncertain significance
rs776616940	1:7,887,424	T/C	—	likely benign
rs1473222206	1:7,887,444	G/A	—	uncertain significance
rs1436463316	1:7,887,490	G/A	—	uncertain significance
rs35899625	1:7,887,499	T/G	—	benign
rs1480760882	1:7,887,515	G/A	—	likely benign
rs142237154	1:7,887,516	C/T	—	likely benign
rs139710546	1:7,887,523	C/T	—	uncertain significance
rs2097307599	1:7,887,538	C/A	—	uncertain significance

Showing 100 of 138 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.