POT1

protection of telomeres 1

Summary

This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

Known Variants1,460 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs537858943	7:124,462,509	T/C	—	uncertain significance
rs17246404	7:124,462,661	C/T	3 prime UTR variant	—
rs530211997	7:124,463,018	C/T	—	benign
rs184241887	7:124,463,927	T/C	—	likely benign
rs375207235	7:124,463,987	T/C	—	likely benign
rs1584745478	7:124,464,019	G/C	—	uncertain significance
rs2116403131	7:124,464,020	A/G	—	uncertain significance
rs2116403150	7:124,464,022	T/G	—	likely benign
rs2485332568	7:124,464,024	C/A	—	likely benign
rs2116403163	7:124,464,025	A/C	—	uncertain significance
rs2485332591	7:124,464,026	T/A	—	uncertain significance
rs1584745486	7:124,464,030	C/T	—	uncertain significance
rs2485332623	7:124,464,031	T/C	—	likely benign
rs2485332634	7:124,464,032	G/C	—	uncertain significance
rs747028178	7:124,464,036	C/G	—	uncertain significance
rs17147565	7:124,464,037	T/G	—	benign
rs1260196051	7:124,464,039	T/C	—	uncertain significance
rs1584745500	7:124,464,040	G/T	—	likely benign
rs1584745502	7:124,464,041	G/T	—	uncertain significance
rs1486254989	7:124,464,043	G/C	—	uncertain significance
rs545521975	7:124,464,044	T/C	—	uncertain significance
rs1794569429	7:124,464,046	A/C	—	uncertain significance
rs1794569508	7:124,464,049	A/C	—	uncertain significance
rs1554414645	7:124,464,050	A/G	—	uncertain significance
rs1410012081	7:124,464,051	T/C	—	uncertain significance
rs587777478	7:124,464,052	C/G	—	pathogenic
rs760062934	7:124,464,056	T/C	—	uncertain significance
rs188854542	7:124,464,057	A/G	—	uncertain significance
rs2116403353	7:124,464,058	G/A	—	likely benign
rs2116403364	7:124,464,059	C/A	—	uncertain significance
rs1584745529	7:124,464,061	A/C	—	uncertain significance
rs142059197	7:124,464,070	A/T	—	conflicting classifications of pathogenicity
rs907969253	7:124,464,071	T/G	—	uncertain significance
rs2485333059	7:124,464,074	G/C	—	uncertain significance
rs1794570589	7:124,464,077	C/G	—	uncertain significance
rs2485333081	7:124,464,079	A/G	—	likely benign
rs202024401	7:124,464,080	T/C	—	conflicting classifications of pathogenicity
rs2485333098	7:124,464,082	T/G	—	likely benign
rs1487337443	7:124,464,085	G/A	—	conflicting classifications of pathogenicity
rs1554414690	7:124,464,087	C/T	—	uncertain significance
rs376707680	7:124,464,089	T/C	—	conflicting classifications of pathogenicity
rs1794570957	7:124,464,090	T/C	—	uncertain significance
rs2116403498	7:124,464,091	G/A	—	likely benign
rs1363813360	7:124,464,092	T/C	—	uncertain significance
rs1327415212	7:124,464,093	A/G	—	uncertain significance
rs1794571192	7:124,464,094	T/C	—	likely benign
rs2485333178	7:124,464,098	T/C	—	uncertain significance
rs940749964	7:124,464,101	A/G	—	uncertain significance
rs1554414706	7:124,464,102	T/C	—	uncertain significance
rs1562971847	7:124,464,104	A/G	—	uncertain significance
rs760056377	7:124,464,106	G/A	—	likely benign
rs766020213	7:124,464,107	C/G	—	conflicting classifications of pathogenicity
rs753762757	7:124,464,111	C/T	—	uncertain significance
rs1584745590	7:124,464,112	C/T	—	likely benign
rs375110259	7:124,464,114	A/G	—	likely benign
rs996577534	7:124,464,116	C/T	—	uncertain significance
rs754981355	7:124,464,118	C/T	—	likely benign
rs779050803	7:124,464,119	G/A	—	uncertain significance
rs1584745610	7:124,464,120	G/A	—	uncertain significance
rs2485333371	7:124,464,121	A/G	—	likely benign
rs2485333383	7:124,464,122	T/C	—	uncertain significance
rs752430203	7:124,464,124	T/C	—	likely benign
rs2485333410	7:124,464,125	G/T	—	uncertain significance
rs1794572799	7:124,464,126	C/A	—	uncertain significance
rs2116403728	7:124,464,127	A/G	—	likely benign
rs1794572863	7:124,464,128	T/C	—	uncertain significance
rs2116403760	7:124,464,131	A/C	—	uncertain significance
rs1050733144	7:124,464,132	C/T	—	likely benign
rs2485333536	7:124,464,133	A/G	—	conflicting classifications of pathogenicity
rs2485333549	7:124,464,134	A/G	—	likely benign
rs758251952	7:124,464,135	A/C	—	likely benign
rs2485333580	7:124,464,137	A/T	—	likely benign
rs777834542	7:124,464,140	A/G	—	likely benign
rs1447234357	7:124,464,144	C/A	—	likely benign
rs1395452038	7:124,464,145	A/G	—	likely benign
rs575804706	7:124,464,153	C/T	—	likely benign
rs929365	7:124,464,431	C/T	—	likely benign
rs2301930	7:124,465,097	A/T	—	benign
rs146966778	7:124,465,256	T/C	—	likely benign
rs1299779714	7:124,465,262	C/A	—	uncertain significance
rs371196958	7:124,465,266	A/C	—	uncertain significance
rs776266785	7:124,465,276	G/A	—	likely benign
rs1419555046	7:124,465,288	T/C	—	likely benign
rs2485337491	7:124,465,289	A/T	—	likely benign
rs2485337523	7:124,465,295	T/G	—	likely benign
rs2116407521	7:124,465,301	C/A	—	conflicting classifications of pathogenicity
rs1562972354	7:124,465,305	C/A	—	conflicting classifications of pathogenicity
rs1462868950	7:124,465,307	A/G	—	conflicting classifications of pathogenicity
rs2485337670	7:124,465,309	T/A	—	uncertain significance
rs1794601418	7:124,465,313	T/C	—	uncertain significance
rs2485337712	7:124,465,315	T/C	—	likely benign
rs751661236	7:124,465,316	T/C	—	likely benign
rs1794601658	7:124,465,317	C/T	—	uncertain significance
rs1584746381	7:124,465,319	T/C	—	likely benign
rs2116407652	7:124,465,320	G/A	—	uncertain significance
rs1794601828	7:124,465,321	G/T	—	uncertain significance
rs1436064065	7:124,465,323	G/A	—	uncertain significance
rs2116407690	7:124,465,324	G/A	—	uncertain significance
rs1794601957	7:124,465,326	C/A	—	uncertain significance
rs1794602030	7:124,465,327	A/G	—	uncertain significance

Showing 100 of 1,460 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.