PRKN

parkin RBR E3 ubiquitin protein ligase

Summary

The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]

Known Variants420 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs16892479	6:161,768,613	T/C	—	uncertain significance
rs117341007	6:161,768,639	T/C	—	benign
rs924577572	6:161,768,643	T/C	—	uncertain significance
rs867195540	6:161,768,645	G/T	—	uncertain significance
rs68121389	6:161,768,651	G/T	—	benign
rs868117815	6:161,768,656	T/G	—	uncertain significance
rs886061228	6:161,768,657	T/G	—	uncertain significance
rs371405899	6:161,768,680	C/T	—	uncertain significance
rs886061229	6:161,768,688	T/C	—	uncertain significance
rs12215447	6:161,768,768	G/T	—	uncertain significance
rs191130749	6:161,768,777	G/A	—	likely benign
rs1163661606	6:161,768,872	A/G	—	uncertain significance
rs541135564	6:161,768,899	C/T	—	uncertain significance
rs138660139	6:161,768,914	C/T	—	likely benign
rs967885779	6:161,768,917	G/A	—	uncertain significance
rs149239597	6:161,768,937	C/T	—	uncertain significance
rs1273156810	6:161,768,939	C/T	—	uncertain significance
rs116309008	6:161,768,944	G/A	—	likely benign
rs886061230	6:161,769,109	A/G	—	uncertain significance
rs1122470	6:161,769,110	C/T	—	benign
rs75529362	6:161,769,134	C/T	—	uncertain significance
rs148426411	6:161,769,222	C/T	—	likely benign
rs77283740	6:161,769,436	C/T	—	likely benign
rs16892481	6:161,769,437	G/A	—	uncertain significance
rs187134044	6:161,769,446	T/C	—	uncertain significance
rs779851186	6:161,769,530	C/T	—	uncertain significance
rs1401264418	6:161,769,555	G/A	—	uncertain significance
rs567890129	6:161,769,581	T/C	—	uncertain significance
rs1784415095	6:161,769,631	G/A	—	uncertain significance
rs886061231	6:161,769,661	C/T	—	uncertain significance
rs11961229	6:161,769,669	G/T	—	likely benign
rs11961237	6:161,769,724	G/A	—	likely benign
rs140107485	6:161,769,745	T/C	—	uncertain significance
rs1289507934	6:161,769,748	A/G	—	uncertain significance
rs3734464	6:161,769,835	C/T	—	benign
rs571904443	6:161,769,850	G/A	—	uncertain significance
rs77926621	6:161,769,879	G/A	—	likely benign
rs961026516	6:161,769,888	G/T	—	uncertain significance
rs1459030812	6:161,769,973	A/G	—	uncertain significance
rs886061232	6:161,769,975	G/C	—	uncertain significance
rs924908743	6:161,770,029	G/C	—	uncertain significance
rs886061234	6:161,770,115	G/A	—	uncertain significance
rs74701717	6:161,770,311	T/A	—	benign
rs1784435392	6:161,770,409	C/T	—	uncertain significance
rs71653629	6:161,770,479	G/A	—	benign
rs530999210	6:161,770,508	A/G	—	uncertain significance
rs886061235	6:161,770,659	A/G	—	uncertain significance
rs1784443204	6:161,770,698	G/C	—	uncertain significance
rs764753874	6:161,770,759	G/C	—	uncertain significance
rs71653628	6:161,770,811	T/G	—	benign
rs886061236	6:161,770,817	G/T	—	uncertain significance
rs576586040	6:161,770,830	C/G	—	uncertain significance
rs1182122095	6:161,770,991	T/C	—	uncertain significance
rs557142572	6:161,771,010	T/G	—	uncertain significance
rs573670651	6:161,771,025	C/T	—	uncertain significance
rs771094906	6:161,771,033	C/T	—	uncertain significance
rs62637702	6:161,771,037	T/C	—	likely benign
rs553007666	6:161,771,071	G/T	—	uncertain significance
rs35125035	6:161,771,116	G/T	—	likely benign
rs1371115187	6:161,771,137	G/A	—	likely benign
rs2483164417	6:161,771,145	A/G	—	uncertain significance
rs182893847	6:161,771,157	T/G	—	conflicting classifications of pathogenicity
rs755627153	6:161,771,163	C/T	—	uncertain significance
rs748955949	6:161,771,165	C/T	—	uncertain significance
rs2483164755	6:161,771,170	C/T	—	pathogenic
rs137853056	6:161,771,171	C/T	stop gained	pathogenic
rs1784464048	6:161,771,177	C/G	—	uncertain significance
rs748617874	6:161,771,191	G/C	—	uncertain significance
rs961239925	6:161,771,195	C/T	—	pathogenic
rs772592654	6:161,771,199	C/G	—	uncertain significance
rs1431609897	6:161,771,200	G/A	—	likely benign
rs778305273	6:161,771,208	A/G	—	pathogenic
rs1295020071	6:161,771,212	G/T	—	likely benign
rs149953814	6:161,771,219	G/A	—	conflicting classifications of pathogenicity
rs759692468	6:161,771,220	G/C	—	uncertain significance
rs949479970	6:161,771,227	C/T	—	uncertain significance
rs1582953433	6:161,771,228	A/G	—	likely pathogenic
rs774317638	6:161,771,229	T/C	—	uncertain significance
rs397514694	6:161,771,237	C/A	missense variant	pathogenic
rs1267567025	6:161,771,239	G/A	—	likely benign
rs191486604	6:161,771,240	C/T	missense variant	pathogenic
rs1226997153	6:161,771,241	C/T	—	conflicting classifications of pathogenicity
rs760223151	6:161,771,243	C/T	—	uncertain significance
rs765860776	6:161,771,246	G/C	—	pathogenic
rs202021008	6:161,771,247	T/C	—	uncertain significance
rs74497568	6:161,771,361	T/C	—	benign
rs80033990	6:161,771,412	C/T	—	benign
rs78691111	6:161,771,480	G/A	—	likely benign
rs189207473	6:161,773,581	A/T	intron variant	—
rs1330778122	6:161,781,136	T/C	—	likely benign
rs531247345	6:161,781,146	C/T	—	uncertain significance
rs1554252200	6:161,781,153	A/G	—	likely pathogenic
rs189941210	6:161,781,154	G/A	—	likely benign
rs778125254	6:161,781,161	G/T	—	likely pathogenic
rs2114859634	6:161,781,189	C/T	—	uncertain significance
rs886061237	6:161,781,192	C/T	—	uncertain significance
rs766915327	6:161,781,200	C/T	—	uncertain significance
rs55830907	6:161,781,201	G/A	missense variant	uncertain significance
rs372141916	6:161,781,211	G/A	—	likely benign
rs1784919731	6:161,781,212	G/A	—	uncertain significance

Showing 100 of 420 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.