VPS16

VPS16 core subunit of CORVET and HOPS complexes

Summary

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]

Known Variants117 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs913659	20:2,821,144	C/T	—	benign
rs2297046	20:2,821,400	T/C	—	benign
rs567061093	20:2,821,415	C/G	—	uncertain significance
rs1305419216	20:2,821,425	A/G	—	uncertain significance
rs2515070789	20:2,821,471	C/G	—	uncertain significance
rs114441777	20:2,821,528	C/T	—	benign
rs2297047	20:2,821,601	C/T	—	benign
rs73083225	20:2,823,380	C/G	—	—
rs183004835	20:2,834,460	A/G	intron variant	—
rs751060991	20:2,840,361	G/A	—	likely benign
rs2515113610	20:2,840,441	G/A	—	uncertain significance
rs201176727	20:2,840,447	C/T	—	uncertain significance
rs2515114359	20:2,840,698	A/T	—	likely pathogenic
rs367642720	20:2,840,713	C/A	—	pathogenic
rs1409099094	20:2,840,755	C/G	—	likely benign
rs760297252	20:2,840,756	G/A	—	uncertain significance
rs753600271	20:2,840,763	A/C	—	uncertain significance
rs3818605	20:2,840,773	C/T	—	benign
rs2089211582	20:2,840,790	G/T	—	uncertain significance
rs2297048	20:2,840,929	G/A	—	benign
rs200835160	20:2,840,930	G/A	—	uncertain significance
rs759135266	20:2,841,011	A/C	—	uncertain significance
rs144621348	20:2,841,100	G/A	—	likely benign
rs201361536	20:2,841,132	T/C	—	uncertain significance
rs548944905	20:2,841,136	C/T	—	likely benign
rs758714420	20:2,841,152	G/A	—	uncertain significance
rs142580838	20:2,841,195	C/T	—	uncertain significance
rs779665168	20:2,841,221	C/T	—	uncertain significance
rs2089219111	20:2,841,419	G/T	—	uncertain significance
rs199677593	20:2,841,423	G/C	—	uncertain significance
rs754351705	20:2,841,438	C/T	—	conflicting classifications of pathogenicity
rs761091668	20:2,841,505	C/T	—	uncertain significance
rs369717437	20:2,841,618	G/A	—	likely benign
rs138844276	20:2,841,621	C/T	—	likely benign
rs199779642	20:2,841,623	C/T	—	uncertain significance
rs2515117030	20:2,841,661	G/A	—	uncertain significance
rs1445637453	20:2,841,722	G/A	—	uncertain significance
rs1283288962	20:2,841,887	T/G	—	uncertain significance
rs941830906	20:2,841,892	T/C	—	uncertain significance
rs376818050	20:2,841,901	C/T	—	uncertain significance
rs6138920	20:2,842,102	T/C	—	benign
rs1379160883	20:2,842,263	G/A	—	uncertain significance
rs771673273	20:2,842,268	C/T	—	uncertain significance
rs201488911	20:2,842,275	G/A	—	uncertain significance
rs375554303	20:2,842,292	G/A	—	uncertain significance
rs200275618	20:2,842,331	G/A	—	uncertain significance
rs201797498	20:2,842,335	C/G	—	uncertain significance
rs139209677	20:2,842,337	C/T	—	uncertain significance
rs149546324	20:2,842,455	G/A	—	uncertain significance
rs776754304	20:2,842,500	C/T	—	uncertain significance
rs144194596	20:2,842,524	G/A	—	uncertain significance
rs6051449	20:2,842,685	A/C	—	benign
rs1430292584	20:2,842,713	A/T	—	uncertain significance
rs769955647	20:2,842,723	A/G	—	uncertain significance
rs632080	20:2,843,053	A/G	—	benign
rs2515121776	20:2,843,226	A/G	—	uncertain significance
rs974606363	20:2,843,241	C/T	—	uncertain significance
rs139527921	20:2,843,243	G/A	—	uncertain significance
rs2089244700	20:2,843,248	G/C	—	uncertain significance
rs200577599	20:2,843,255	C/T	—	uncertain significance
rs142410935	20:2,843,345	A/C	—	uncertain significance
rs368671330	20:2,843,503	C/T	—	likely benign
rs773964217	20:2,843,504	G/A	—	uncertain significance
rs779619779	20:2,843,565	C/T	—	uncertain significance
rs2089253964	20:2,843,582	T/C	—	likely pathogenic
rs373116713	20:2,843,710	G/T	—	uncertain significance
rs374769660	20:2,843,714	T/G	—	pathogenic
rs150495430	20:2,843,727	A/G	—	likely benign
rs1600004624	20:2,843,748	T/C	—	pathogenic
rs2515126749	20:2,843,937	C/T	—	uncertain significance
rs377198108	20:2,843,940	G/A	—	uncertain significance
rs2146673211	20:2,843,957	C/G	—	likely pathogenic
rs141226767	20:2,843,989	G/A	—	uncertain significance
rs201932313	20:2,844,017	G/C	—	uncertain significance
rs112081527	20:2,844,226	T/C	—	benign
rs772562294	20:2,844,628	G/T	—	uncertain significance
rs752434349	20:2,844,659	C/T	—	uncertain significance
rs61729231	20:2,844,679	G/T	—	uncertain significance
rs368759422	20:2,844,827	G/T	—	uncertain significance
rs762665854	20:2,844,831	G/A	—	uncertain significance
rs375302670	20:2,844,843	C/T	—	uncertain significance
rs200043001	20:2,844,847	C/T	—	uncertain significance
rs2089286424	20:2,844,876	A/G	—	uncertain significance
rs2274671	20:2,844,911	C/T	—	benign
rs1427342739	20:2,844,912	G/A	—	uncertain significance
rs781503007	20:2,844,918	G/A	—	uncertain significance
rs372849166	20:2,845,027	G/A	—	likely benign
rs34653198	20:2,845,039	C/T	—	benign
rs375786650	20:2,845,104	G/A	—	uncertain significance
rs730819	20:2,845,130	G/A	—	benign
rs140467279	20:2,845,200	A/T	—	uncertain significance
rs61729230	20:2,845,214	G/A	—	likely benign
rs1422519039	20:2,845,277	C/T	—	pathogenic
rs200082873	20:2,845,625	G/A	—	uncertain significance
rs374914263	20:2,845,636	C/T	—	conflicting classifications of pathogenicity
rs1311539134	20:2,845,649	T/G	—	uncertain significance
rs1327771245	20:2,845,784	G/A	—	uncertain significance
rs772582946	20:2,845,813	G/A	—	uncertain significance
rs149911458	20:2,845,817	C/T	—	likely benign
rs765879503	20:2,845,822	G/T	—	uncertain significance

Showing 100 of 117 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.