SIRT1

sirtuin 1

Summary

This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

Known Variants133 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12778366	10:69,643,079	T/C	upstream gene variant	—
rs3758391	10:69,643,342	T/C	upstream gene variant	—
rs35706870	10:69,643,617	A/G	—	—
rs3740051	10:69,643,959	A/G	regulatory region variant	—
rs932658	10:69,644,217	A/C	regulatory region variant	—
rs2394443	10:69,644,341	G/C	regulatory region variant	—
rs995528945	10:69,644,485	G/A	—	likely benign
rs1589064382	10:69,644,490	A/G	—	uncertain significance
rs772520587	10:69,644,494	G/A	—	likely benign
rs2131841433	10:69,644,502	C/T	—	uncertain significance
rs190121724	10:69,644,503	C/A	—	likely benign
rs2492880564	10:69,644,505	T/C	—	uncertain significance
rs201230502	10:69,644,519	T/C	—	uncertain significance
rs1163052650	10:69,644,521	C/T	—	likely benign
rs1368006921	10:69,644,523	C/T	—	uncertain significance
rs995901311	10:69,644,526	C/A	—	uncertain significance
rs202116523	10:69,644,527	G/A	—	likely benign
rs1431102999	10:69,644,532	C/T	—	uncertain significance
rs2492880737	10:69,644,535	G/C	—	likely benign
rs2131841526	10:69,644,538	C/G	—	uncertain significance
rs2131841542	10:69,644,541	A/G	—	uncertain significance
rs1038835513	10:69,644,548	G/A	—	likely benign
rs1202064844	10:69,644,555	T/G	—	uncertain significance
rs1489985293	10:69,644,556	C/T	—	uncertain significance
rs948757989	10:69,644,567	G/A	—	uncertain significance
rs1344714636	10:69,644,588	C/G	—	uncertain significance
rs548590752	10:69,644,589	C/T	—	benign
rs1053224730	10:69,644,610	T/A	—	uncertain significance
rs1011345346	10:69,644,621	C/T	—	uncertain significance
rs568432780	10:69,644,622	C/T	—	uncertain significance
rs1446726608	10:69,644,661	C/G	—	uncertain significance
rs964485281	10:69,644,667	C/T	—	uncertain significance
rs531048058	10:69,644,675	G/T	—	uncertain significance
rs1450691401	10:69,644,682	C/G	—	uncertain significance
rs1405762679	10:69,644,683	G/A	—	likely benign
rs1471411863	10:69,644,686	T/G	—	likely benign
rs751564985	10:69,644,688	C/T	—	conflicting classifications of pathogenicity
rs983336735	10:69,644,689	G/A	—	likely benign
rs1461061909	10:69,644,694	C/T	—	uncertain significance
rs1366858346	10:69,644,698	G/T	—	likely benign
rs864309601	10:69,644,712	A/G	—	uncertain significance
rs1564880865	10:69,644,715	C/T	—	uncertain significance
rs550317521	10:69,644,769	C/A	—	likely benign
rs990065260	10:69,644,779	A/C	—	uncertain significance
rs978078516	10:69,644,787	A/G	—	uncertain significance
rs755862606	10:69,644,798	C/T	—	likely benign
rs587776957	10:69,644,799	T/C	—	uncertain significance
rs182199697	10:69,644,820	A/C	—	benign
rs1842453200	10:69,644,832	A/G	—	uncertain significance
rs1405935125	10:69,644,836	C/T	—	likely benign
rs1406007212	10:69,644,871	A/G	—	uncertain significance
rs772263354	10:69,644,884	G/A	—	likely benign
rs33957861	10:69,646,976	C/T	intron variant	—
rs1842500910	10:69,647,180	C/G	—	uncertain significance
rs978488168	10:69,647,190	G/A	—	uncertain significance
rs200660028	10:69,647,219	T/C	—	uncertain significance
rs144124002	10:69,647,253	A/G	missense variant	likely benign
rs200805107	10:69,647,279	A/G	—	uncertain significance
rs777980467	10:69,647,287	G/A	—	likely benign
rs2236318	10:69,648,569	T/A	intron variant	—
rs201230766	10:69,648,629	C/T	—	likely benign
rs768615800	10:69,648,630	C/G	—	likely benign
rs201841214	10:69,648,649	C/G	—	uncertain significance
rs148700975	10:69,648,653	T/C	—	likely benign
rs200994303	10:69,648,670	T/C	—	uncertain significance
rs1292146988	10:69,648,672	A/G	—	uncertain significance
rs201007799	10:69,648,723	C/A	—	uncertain significance
rs758492386	10:69,648,749	A/T	—	likely benign
rs2492897027	10:69,648,781	A/T	—	uncertain significance
rs201479376	10:69,648,827	T/A	—	uncertain significance
rs757474809	10:69,648,848	G/A	—	likely benign
rs2236319	10:69,649,220	A/G	intron variant	—
rs7896005	10:69,651,125	A/G	intron variant	—
rs1842572334	10:69,651,211	G/A	—	uncertain significance
rs199983221	10:69,651,266	T/C	—	uncertain significance
rs36107781	10:69,651,319	T/C	splice region variant	benign
rs12413112	10:69,651,866	G/A	intron variant	—
rs189050011	10:69,653,320	A/G	—	—
rs11599176	10:69,653,775	A/G	intron variant	—
rs35689145	10:69,659,767	G/C	—	—
rs7069102	10:69,663,120	C/G	intron variant	—
rs368608253	10:69,666,564	A/G	—	likely benign
rs2492947265	10:69,666,588	A/G	—	likely benign
rs2273773	10:69,666,598	T/C	synonymous variant	benign
rs200610338	10:69,666,602	C/T	—	uncertain significance
rs147909071	10:69,666,626	G/A	—	benign
rs141528984	10:69,666,665	C/T	—	uncertain significance
rs36067477	10:69,666,666	G/A	—	benign
rs116374368	10:69,666,675	A/T	—	uncertain significance
rs2492947903	10:69,666,706	T/G	—	likely benign
rs34701705	10:69,667,783	T/C	intron variant	benign
rs760388198	10:69,667,822	T/C	—	likely benign
rs2492951297	10:69,667,837	A/C	—	uncertain significance
rs10997870	10:69,668,014	G/T	intron variant	—
rs1047393773	10:69,669,037	C/T	—	uncertain significance
rs756204143	10:69,669,051	G/A	—	benign
rs149206117	10:69,669,073	A/G	—	uncertain significance
rs775426483	10:69,669,097	C/A	—	uncertain significance
rs201635394	10:69,669,116	C/G	—	uncertain significance
rs772640272	10:69,669,131	A/G	—	uncertain significance

Showing 100 of 133 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.