STUB1

STIP1 homology and U-box containing protein 1

Summary

This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]

Known Variants142 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12600184	16:729,825	A/G	—	benign
rs12599315	16:729,831	C/T	—	benign
rs115640188	16:730,074	A/G	—	benign
rs116166850	16:730,226	G/C	—	benign
rs557232092	16:730,430	C/T	—	likely benign
rs778376720	16:730,540	G/A	—	likely benign
rs758359029	16:730,550	G/A	—	uncertain significance
rs777501465	16:730,556	G/A	—	uncertain significance
rs2543800381	16:730,568	G/T	—	uncertain significance
rs770617507	16:730,569	C/T	—	uncertain significance
rs868806649	16:730,577	G/A	—	uncertain significance
rs1294361295	16:730,582	C/T	—	likely benign
rs370852264	16:730,585	C/A	—	likely benign
rs774604020	16:730,601	G/A	—	uncertain significance
rs2039634238	16:730,622	G/A	—	pathogenic
rs1046869202	16:730,626	A/G	—	uncertain significance
rs1412198141	16:730,629	G/C	—	uncertain significance
rs2151503709	16:730,632	T/C	—	uncertain significance
rs2151503716	16:730,641	G/A	—	uncertain significance
rs2151503733	16:730,659	C/A	—	uncertain significance
rs375727842	16:730,668	G/A	—	uncertain significance
rs1276268725	16:730,669	C/T	—	likely benign
rs2543800831	16:730,670	T/G	—	uncertain significance
rs757849639	16:730,671	A/G	—	conflicting classifications of pathogenicity
rs2151503748	16:730,679	G/A	—	uncertain significance
rs78410329	16:730,830	C/T	—	benign
rs569158766	16:730,879	G/C	—	likely benign
rs72773412	16:730,955	A/T	—	benign
rs747447549	16:731,136	C/G	—	likely benign
rs2543803064	16:731,147	C/G	—	uncertain significance
rs769412843	16:731,148	C/T	—	likely benign
rs2543803110	16:731,160	C/G	—	pathogenic
rs2151504167	16:731,162	C/T	—	likely pathogenic
rs1596548953	16:731,174	T/C	—	uncertain significance
rs2543803300	16:731,185	A/G	—	uncertain significance
rs690016544	16:731,186	A/G	missense variant	pathogenic
rs2039644942	16:731,187	C/G	—	uncertain significance
rs2151504209	16:731,191	G/A	—	pathogenic
rs2543803363	16:731,199	C/G	—	likely pathogenic
rs587777346	16:731,227	G/A	missense variant	pathogenic
rs587777347	16:731,228	C/A	missense variant	pathogenic
rs1451302365	16:731,235	C/T	—	likely benign
rs1033465525	16:731,290	C/T	—	likely benign
rs1375407071	16:731,295	G/T	—	likely benign
rs148553428	16:731,318	G/A	—	likely benign
rs775164755	16:731,339	A/G	—	uncertain significance
rs372117923	16:731,418	G/C	—	likely benign
rs587777344	16:731,446	C/G	missense variant	pathogenic
rs2543804995	16:731,461	C/T	—	uncertain significance
rs1204705762	16:731,463	G/C	—	likely benign
rs587777341	16:731,468	A/T	missense variant	pathogenic
rs2151504534	16:731,470	T/C	—	uncertain significance
rs143361117	16:731,472	C/T	—	likely benign
rs2543805086	16:731,474	G/A	—	uncertain significance
rs370676068	16:731,481	C/T	—	likely benign
rs2543805295	16:731,504	C/T	—	uncertain significance
rs146251364	16:731,512	A/C	—	conflicting classifications of pathogenicity
rs11861355	16:731,517	C/T	—	likely benign
rs2151504570	16:731,519	G/A	—	pathogenic
rs587777342	16:731,520	G/T	missense variant	pathogenic
rs11642472	16:731,539	C/T	—	uncertain significance
rs1396282737	16:731,547	C/T	—	likely benign
rs776620952	16:731,548	C/T	—	likely pathogenic
rs750520142	16:731,556	C/T	—	uncertain significance
rs587777340	16:731,572	C/T	missense variant	pathogenic
rs750506956	16:731,588	C/T	—	uncertain significance
rs755346712	16:731,597	G/T	—	uncertain significance
rs370181948	16:731,600	A/G	—	uncertain significance
rs756314027	16:731,606	G/A	—	uncertain significance
rs6597	16:731,725	T/G	—	benign
rs1046112	16:731,771	C/T	—	benign
rs199505183	16:731,774	G/A	—	likely benign
rs749148299	16:731,776	T/C	—	likely benign
rs2151505130	16:731,785	A/G	—	uncertain significance
rs191288334	16:731,789	C/T	—	likely benign
rs2151505158	16:731,792	G/A	—	likely pathogenic
rs764534080	16:731,803	G/A	—	uncertain significance
rs2543808558	16:731,807	G/A	—	uncertain significance
rs144127842	16:731,811	G/T	—	uncertain significance
rs369941408	16:731,812	C/T	—	likely pathogenic
rs145094142	16:731,813	G/A	—	uncertain significance
rs778709890	16:731,820	C/T	—	likely benign
rs757171182	16:731,821	G/A	—	uncertain significance
rs764657057	16:731,836	G/A	—	conflicting classifications of pathogenicity
rs538288405	16:731,843	A/G	—	likely benign
rs200514887	16:731,845	G/A	—	uncertain significance
rs377648766	16:731,849	G/A	—	uncertain significance
rs758120574	16:731,855	A/G	—	likely benign
rs2543810029	16:731,859	G/C	—	uncertain significance
rs1567281056	16:731,891	C/G	—	uncertain significance
rs1468413593	16:731,896	A/G	—	likely benign
rs41292279	16:731,933	G/A	—	likely benign
rs115253201	16:731,953	G/A	—	likely benign
rs1567281591	16:732,022	C/G	—	uncertain significance
rs759212540	16:732,033	C/T	—	uncertain significance
rs769400605	16:732,034	G/A	—	likely benign
rs763996963	16:732,043	C/G	—	uncertain significance
rs1453093635	16:732,047	C/G	—	uncertain significance
rs79687861	16:732,049	T/C	—	likely benign
rs767441746	16:732,065	G/A	—	uncertain significance

Showing 100 of 142 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.