TDP1

tyrosyl-DNA phosphodiesterase 1

Summary

The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]

Known Variants210 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs577403021	14:90,422,253	G/T	—	uncertain significance
rs886050880	14:90,422,267	C/T	—	uncertain significance
rs886050881	14:90,422,270	C/G	—	uncertain significance
rs1891509764	14:90,422,281	G/A	—	uncertain significance
rs886873955	14:90,422,302	C/T	—	uncertain significance
rs533696578	14:90,422,303	T/G	—	uncertain significance
rs886050882	14:90,422,313	A/C	—	uncertain significance
rs28365055	14:90,422,908	C/A	—	benign
rs28365053	14:90,422,918	G/T	—	benign
rs35439694	14:90,422,928	A/G	—	benign
rs35132667	14:90,422,975	C/T	—	benign
rs886050883	14:90,423,076	T/C	—	uncertain significance
rs751280891	14:90,423,097	C/G	—	uncertain significance
rs1037056557	14:90,423,114	G/A	—	uncertain significance
rs34348197	14:90,423,131	C/T	—	benign
rs767166629	14:90,423,159	T/C	—	uncertain significance
rs7143875	14:90,429,170	T/C	—	benign
rs886042768	14:90,429,456	A/G	—	uncertain significance
rs1376503364	14:90,429,460	T/G	—	likely pathogenic
rs779666160	14:90,429,473	C/T	—	conflicting classifications of pathogenicity
rs1408349393	14:90,429,474	G/A	—	uncertain significance
rs754747710	14:90,429,477	T/C	—	uncertain significance
rs906821798	14:90,429,483	A/G	—	uncertain significance
rs1566842225	14:90,429,492	A/T	—	uncertain significance
rs1428279795	14:90,429,526	C/T	—	uncertain significance
rs1596498067	14:90,429,542	A/G	—	uncertain significance
rs2503785296	14:90,429,549	T/A	—	uncertain significance
rs1320830793	14:90,429,593	G/A	—	likely benign
rs141387488	14:90,429,595	A/G	—	uncertain significance
rs781564388	14:90,429,606	G/A	—	uncertain significance
rs769893779	14:90,429,624	C/T	—	uncertain significance
rs775659893	14:90,429,625	A/G	—	uncertain significance
rs146583849	14:90,429,652	T/A	—	uncertain significance
rs140058160	14:90,429,666	T/A	—	uncertain significance
rs148927677	14:90,429,694	G/C	—	uncertain significance
rs143839052	14:90,429,695	C/T	—	likely benign
rs1318940972	14:90,429,714	G/T	—	uncertain significance
rs2503789863	14:90,429,734	T/G	—	uncertain significance
rs35114462	14:90,429,743	G/T	—	benign
rs3825663	14:90,429,749	A/G	—	benign
rs775206722	14:90,429,756	A/G	—	uncertain significance
rs35455108	14:90,429,760	C/T	—	likely benign
rs1940068150	14:90,429,779	A/C	—	uncertain significance
rs767823010	14:90,429,780	G/A	—	uncertain significance
rs2503791078	14:90,429,788	C/G	—	uncertain significance
rs756683358	14:90,429,796	A/G	—	uncertain significance
rs370785146	14:90,429,804	A/G	—	uncertain significance
rs150113775	14:90,429,811	C/T	—	uncertain significance
rs200906712	14:90,429,828	G/A	—	uncertain significance
rs200900192	14:90,429,837	A/G	—	conflicting classifications of pathogenicity
rs1892580043	14:90,429,847	A/G	—	uncertain significance
rs373648175	14:90,429,857	C/T	—	likely benign
rs28365054	14:90,429,858	G/A	missense variant	benign
rs935815187	14:90,429,887	C/T	—	likely benign
rs780109615	14:90,429,970	T/C	—	uncertain significance
rs35807866	14:90,429,995	C/T	—	benign
rs1555382978	14:90,430,014	A/G	—	uncertain significance
rs35782158	14:90,432,426	G/A	—	benign
rs1555383437	14:90,432,503	C/T	—	uncertain significance
rs771269304	14:90,432,516	G/A	—	likely benign
rs35257587	14:90,432,615	C/T	—	benign
rs34705515	14:90,432,652	A/G	—	benign
rs2503846393	14:90,433,705	A/G	—	uncertain significance
rs748161679	14:90,433,707	C/G	—	likely benign
rs746662161	14:90,433,728	C/T	—	likely benign
rs754702237	14:90,433,750	T/C	—	uncertain significance
rs1419429419	14:90,433,757	C/T	—	uncertain significance
rs148474327	14:90,433,762	T/C	—	uncertain significance
rs1893075220	14:90,433,764	C/A	—	uncertain significance
rs35992678	14:90,437,328	C/T	—	likely benign
rs11851737	14:90,437,357	A/T	—	benign
rs751528967	14:90,437,554	G/A	—	uncertain significance
rs750038981	14:90,437,575	A/G	—	uncertain significance
rs779863680	14:90,437,590	C/G	—	uncertain significance
rs779526188	14:90,437,595	G/A	—	uncertain significance
rs11848062	14:90,437,743	T/C	—	benign
rs28441698	14:90,437,880	G/C	—	benign
rs35369172	14:90,441,929	T/G	—	benign
rs34259367	14:90,441,931	T/G	—	benign
rs17126517	14:90,442,063	T/C	—	likely benign
rs202165305	14:90,442,125	G/A	—	uncertain significance
rs151271332	14:90,442,132	T/G	—	uncertain significance
rs139270583	14:90,442,142	G/A	—	likely benign
rs562317662	14:90,442,157	C/T	—	uncertain significance
rs35017384	14:90,442,197	A/G	—	benign
rs11851399	14:90,442,211	A/G	—	benign
rs11851415	14:90,442,217	C/T	—	benign
rs34042183	14:90,442,314	C/T	—	benign
rs34657096	14:90,446,803	A/G	—	benign
rs11848024	14:90,446,832	A/G	—	benign
rs1566867400	14:90,446,893	G/C	—	uncertain significance
rs764936943	14:90,446,894	C/G	—	uncertain significance
rs1303253232	14:90,446,940	A/G	—	uncertain significance
rs190449861	14:90,446,968	A/T	—	uncertain significance
rs370991229	14:90,446,981	G/A	—	uncertain significance
rs35702004	14:90,450,709	T/G	—	benign
rs375601290	14:90,450,845	T/C	—	uncertain significance
rs375817400	14:90,450,879	T/C	—	uncertain significance
rs370121773	14:90,450,885	C/T	—	likely pathogenic
rs34452707	14:90,450,886	G/A	—	likely benign

Showing 100 of 210 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.