TRIP12

thyroid hormone receptor interactor 12

Summary

The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]

Known Variants325 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6687	2:230,632,268	G/A	—	benign
rs1387893497	2:230,632,290	G/A	—	uncertain significance
rs2032190831	2:230,632,293	G/A	—	likely pathogenic
rs2032196278	2:230,632,310	A/T	—	uncertain significance
rs779710378	2:230,632,321	T/A	—	likely benign
rs753443022	2:230,632,333	C/G	—	likely benign
rs1376185843	2:230,632,340	C/G	—	uncertain significance
rs2469686143	2:230,632,345	A/C	—	likely pathogenic
rs747909233	2:230,632,351	C/T	—	likely benign
rs2032214426	2:230,632,352	G/A	—	conflicting classifications of pathogenicity
rs1574632490	2:230,632,440	T/C	—	uncertain significance
rs2154220561	2:230,632,442	A/C	—	likely pathogenic
rs2469692015	2:230,632,458	T/C	—	uncertain significance
rs896265483	2:230,632,460	C/T	—	uncertain significance
rs2032264882	2:230,632,472	T/C	—	uncertain significance
rs2469755273	2:230,633,332	C/T	—	uncertain significance
rs2154225552	2:230,633,388	T/A	—	uncertain significance
rs749300014	2:230,633,401	T/C	—	uncertain significance
rs2154225586	2:230,633,403	C/T	—	uncertain significance
rs142150744	2:230,633,433	C/A	—	uncertain significance
rs559750964	2:230,633,438	A/G	—	likely benign
rs2469796407	2:230,633,966	G/A	—	uncertain significance
rs2469798400	2:230,634,009	G/A	—	likely benign
rs1363589551	2:230,634,048	G/T	—	uncertain significance
rs6759674	2:230,634,187	T/A	—	benign
rs376795567	2:230,636,241	C/T	—	likely benign
rs747501109	2:230,636,242	G/A	—	conflicting classifications of pathogenicity
rs2154234444	2:230,636,260	T/C	—	uncertain significance
rs771630403	2:230,636,274	G/A	—	likely benign
rs111434821	2:230,636,352	C/A	—	benign
rs7584686	2:230,641,870	C/T	—	benign
rs2470271808	2:230,642,111	C/T	—	uncertain significance
rs2036612429	2:230,642,131	G/A	—	uncertain significance
rs2470273503	2:230,642,150	G/T	—	uncertain significance
rs752354696	2:230,642,153	G/A	—	uncertain significance
rs746485884	2:230,642,178	G/T	—	likely benign
rs756723896	2:230,642,184	G/T	—	likely benign
rs138926243	2:230,642,209	T/G	—	uncertain significance
rs1428800056	2:230,643,205	T/C	—	uncertain significance
rs1166506054	2:230,643,217	C/T	—	uncertain significance
rs2470347391	2:230,643,282	T/C	—	uncertain significance
rs377147961	2:230,643,582	T/C	—	likely benign
rs2470374830	2:230,643,613	C/T	—	uncertain significance
rs2470377269	2:230,643,687	G/A	—	likely pathogenic
rs754853347	2:230,643,695	A/G	—	likely benign
rs2154253509	2:230,650,505	G/A	—	uncertain significance
rs1445260313	2:230,650,514	C/T	—	uncertain significance
rs2470804912	2:230,650,537	G/A	—	likely pathogenic
rs1553602821	2:230,650,558	C/T	—	pathogenic
rs1450608297	2:230,650,570	C/T	—	uncertain significance
rs773633155	2:230,650,571	G/A	—	uncertain significance
rs1064796861	2:230,652,219	A/G	—	pathogenic
rs1468657712	2:230,652,230	A/T	—	likely pathogenic
rs2470915592	2:230,652,280	C/T	—	likely pathogenic
rs2154255362	2:230,652,288	G/T	—	uncertain significance
rs2470916297	2:230,652,294	A/G	—	uncertain significance
rs201900393	2:230,652,302	T/C	—	likely benign
rs2040410947	2:230,652,307	T/C	—	uncertain significance
rs2154255374	2:230,652,312	C/T	—	pathogenic
rs1574994308	2:230,652,313	G/A	—	pathogenic
rs1320218400	2:230,652,352	G/A	—	conflicting classifications of pathogenicity
rs199534503	2:230,652,353	G/A	—	likely benign
rs2470918350	2:230,652,355	T/G	—	uncertain significance
rs2040714903	2:230,653,512	A/C	—	likely pathogenic
rs2040716329	2:230,653,519	T/A	—	uncertain significance
rs149642198	2:230,653,540	T/C	—	benign
rs2470983247	2:230,653,563	T/C	—	uncertain significance
rs2470983448	2:230,653,565	A/T	—	uncertain significance
rs2040727839	2:230,653,618	A/C	—	uncertain significance
rs2154256581	2:230,653,626	T/C	—	uncertain significance
rs74703567	2:230,653,743	T/C	—	benign
rs1575023205	2:230,654,322	C/T	—	likely pathogenic
rs2154257791	2:230,654,326	C/T	—	pathogenic
rs780525259	2:230,654,338	A/G	—	uncertain significance
rs2471032426	2:230,654,347	A/G	—	uncertain significance
rs754662890	2:230,654,368	C/T	—	likely benign
rs146874504	2:230,654,396	C/T	—	likely benign
rs201067731	2:230,654,412	A/G	—	conflicting classifications of pathogenicity
rs1242181004	2:230,654,413	T/C	—	likely benign
rs1575468	2:230,654,682	T/C	—	benign
rs722268	2:230,655,733	C/T	—	benign
rs762153765	2:230,655,887	G/T	—	uncertain significance
rs772040189	2:230,655,888	T/C	—	uncertain significance
rs2471118395	2:230,655,890	G/T	—	uncertain significance
rs2471122222	2:230,655,949	C/G	—	uncertain significance
rs1300925899	2:230,655,951	C/G	—	uncertain significance
rs2041634150	2:230,656,577	C/T	—	pathogenic
rs1470152026	2:230,656,588	G/T	—	uncertain significance
rs981241633	2:230,656,667	G/C	—	uncertain significance
rs1559428905	2:230,656,679	G/A	—	pathogenic
rs200028448	2:230,656,710	C/T	—	likely benign
rs1367634297	2:230,656,720	T/C	—	uncertain significance
rs775671065	2:230,656,740	C/T	—	likely benign
rs1157793506	2:230,656,744	C/T	—	uncertain significance
rs2471180913	2:230,656,774	T/G	—	uncertain significance
rs2471181256	2:230,656,783	T/C	—	pathogenic
rs770247303	2:230,656,865	T/C	—	uncertain significance
rs962906182	2:230,656,907	C/T	—	uncertain significance
rs377294298	2:230,656,921	T/C	—	uncertain significance
rs4973228	2:230,657,496	G/T	—	benign

Showing 100 of 325 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.