VPS35

VPS35 retromer complex component

Summary

This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]

Known Variants182 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs746602580	16:46,693,767	T/C	—	uncertain significance
rs768759859	16:46,693,809	T/A	—	uncertain significance
rs181198454	16:46,693,962	G/T	—	benign
rs553790361	16:46,693,983	C/T	—	uncertain significance
rs886052004	16:46,694,004	C/T	—	uncertain significance
rs572048744	16:46,694,030	C/G	—	benign
rs545755034	16:46,694,038	C/T	—	benign
rs1006640513	16:46,694,039	A/C	—	uncertain significance
rs145606241	16:46,694,095	G/A	—	likely benign
rs199765664	16:46,694,101	G/T	—	uncertain significance
rs886052009	16:46,694,108	T/G	—	uncertain significance
rs1965892398	16:46,694,223	G/A	—	uncertain significance
rs779980787	16:46,694,350	T/C	—	likely benign
rs769119901	16:46,694,411	C/A	—	likely benign
rs777050595	16:46,694,416	C/T	—	not provided
rs931014095	16:46,694,420	T/G	—	uncertain significance
rs1965895878	16:46,694,422	C/G	—	uncertain significance
rs1965895979	16:46,694,425	G/T	—	uncertain significance
rs910938026	16:46,694,436	C/T	—	uncertain significance
rs192419029	16:46,694,455	G/T	—	conflicting classifications of pathogenicity
rs752414695	16:46,694,459	G/A	—	likely benign
rs1479756796	16:46,694,480	C/G	—	uncertain significance
rs2548872634	16:46,694,507	A/T	—	uncertain significance
rs140543776	16:46,694,534	G/A	—	likely benign
rs547805228	16:46,694,553	T/G	—	uncertain significance
rs190723691	16:46,694,781	G/A	—	likely benign
rs8045759	16:46,695,244	C/T	intron variant	—
rs375273548	16:46,695,619	A/G	—	uncertain significance
rs749516404	16:46,695,631	G/A	—	uncertain significance
rs369831560	16:46,695,660	A/G	—	likely benign
rs145033509	16:46,695,696	T/C	—	likely benign
rs199940967	16:46,695,719	T/G	—	likely benign
rs1247681468	16:46,695,767	C/T	—	uncertain significance
rs542139125	16:46,695,768	G/A	—	conflicting classifications of pathogenicity
rs369864421	16:46,695,791	G/C	—	likely benign
rs1044153238	16:46,695,792	G/A	—	likely benign
rs377476545	16:46,696,141	A/G	—	likely benign
rs188831675	16:46,696,161	C/G	—	likely benign
rs2143005842	16:46,696,162	C/T	—	uncertain significance
rs757523799	16:46,696,173	C/T	—	likely benign
rs1386061382	16:46,696,174	G/A	—	uncertain significance
rs376700700	16:46,696,215	A/G	—	likely benign
rs1965925959	16:46,696,259	G/C	—	uncertain significance
rs168745	16:46,696,284	G/G	—	benign
rs144997996	16:46,696,310	T/A	—	uncertain significance
rs1965927007	16:46,696,322	T/C	—	uncertain significance
rs756550058	16:46,696,327	A/G	—	uncertain significance
rs1183192271	16:46,696,329	G/A	—	likely benign
rs138794859	16:46,696,341	G/A	—	likely benign
rs188286943	16:46,696,364	C/T	missense variant	pathogenic
rs1555523076	16:46,696,903	T/C	—	not provided
rs142063738	16:46,696,913	T/A	—	conflicting classifications of pathogenicity
rs896243488	16:46,696,918	C/T	—	uncertain significance
rs145679337	16:46,696,919	T/C	—	likely benign
rs1567468461	16:46,696,920	G/A	—	uncertain significance
rs1434487321	16:46,696,926	T/C	—	not provided
rs148255605	16:46,696,927	G/C	—	uncertain significance
rs1309605849	16:46,697,006	G/C	—	uncertain significance
rs760128592	16:46,697,043	A/G	—	not provided
rs2304492	16:46,697,098	G/A	—	benign
rs117178911	16:46,702,740	T/C	—	benign
rs749793948	16:46,702,847	T/C	—	uncertain significance
rs760887864	16:46,702,903	A/T	—	uncertain significance
rs398124658	16:46,702,913	G/A	—	uncertain significance
rs184277092	16:46,702,919	G/A	—	not provided
rs1463376876	16:46,702,932	A/G	—	likely benign
rs1567264486	16:46,702,939	A/C	—	uncertain significance
rs1205245879	16:46,702,948	C/T	—	uncertain significance
rs2548878138	16:46,702,951	G/T	—	uncertain significance
rs1966030135	16:46,702,952	C/G	—	uncertain significance
rs1966030456	16:46,702,969	C/A	—	uncertain significance
rs36310	16:46,705,502	T/C	—	benign
rs71380965	16:46,705,558	C/T	—	likely benign
rs4966616	16:46,705,576	C/G	—	benign
rs1555465749	16:46,705,621	T/A	—	not provided
rs747325352	16:46,705,646	G/A	—	conflicting classifications of pathogenicity
rs776877370	16:46,705,653	A/G	—	uncertain significance
rs2548879499	16:46,705,659	G/A	—	likely benign
rs141253289	16:46,705,661	A/T	—	uncertain significance
rs1367504626	16:46,705,664	G/A	—	uncertain significance
rs2548879522	16:46,705,674	G/C	—	uncertain significance
rs1596716620	16:46,705,675	C/A	—	uncertain significance
rs797044948	16:46,705,678	T/C	missense variant	pathogenic
rs751379541	16:46,705,694	C/A	—	uncertain significance
rs373113084	16:46,705,714	A/G	—	uncertain significance
rs370401767	16:46,705,721	G/C	—	conflicting classifications of pathogenicity
rs150810185	16:46,705,743	C/T	—	benign
rs1555465774	16:46,705,750	A/G	—	uncertain significance
rs1009455831	16:46,705,770	C/T	—	likely benign
rs1433987232	16:46,705,777	A/G	—	likely benign
rs762973568	16:46,705,781	T/C	—	likely benign
rs759380069	16:46,705,784	G/A	—	likely benign
rs183091274	16:46,706,160	C/T	—	likely benign
rs372967908	16:46,706,162	T/C	—	benign
rs2548880025	16:46,706,214	A/G	—	uncertain significance
rs376209552	16:46,706,218	T/C	—	uncertain significance
rs187425753	16:46,706,228	A/G	—	likely benign
rs745893720	16:46,706,232	C/T	—	uncertain significance
rs1026974904	16:46,706,241	C/T	—	uncertain significance
rs368876504	16:46,706,255	G/A	—	likely benign

Showing 100 of 182 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.