AP3B1

adaptor related protein complex 3 subunit beta 1

Summary

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

Known Variants699 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs114954951	5:77,298,138	T/C	—	likely benign
rs865863660	5:77,298,219	C/T	—	uncertain significance
rs538570213	5:77,298,244	G/A	—	uncertain significance
rs886060768	5:77,298,279	G/A	—	uncertain significance
rs911081557	5:77,298,346	C/G	—	uncertain significance
rs115124715	5:77,298,347	T/C	—	benign
rs6864605	5:77,298,535	G/C	—	uncertain significance
rs753283084	5:77,298,585	A/G	—	uncertain significance
rs11552314	5:77,298,619	A/T	—	benign
rs766029582	5:77,298,625	A/G	—	uncertain significance
rs182487478	5:77,298,682	C/T	—	benign
rs112214336	5:77,298,685	C/T	—	likely benign
rs1021165592	5:77,298,725	G/T	—	likely benign
rs780677693	5:77,298,729	C/T	—	likely benign
rs137901104	5:77,298,746	G/C	—	uncertain significance
rs2478796020	5:77,298,747	C/T	—	likely benign
rs151028592	5:77,298,757	C/T	—	uncertain significance
rs1192574805	5:77,298,774	A/T	—	likely benign
rs773537846	5:77,298,781	G/A	—	uncertain significance
rs976542118	5:77,298,785	T/C	—	uncertain significance
rs760735640	5:77,298,797	T/C	—	uncertain significance
rs34089426	5:77,298,804	C/T	—	conflicting classifications of pathogenicity
rs143654049	5:77,298,807	G/C	—	likely benign
rs1746245704	5:77,298,810	T/A	—	likely benign
rs764100439	5:77,298,814	G/A	—	conflicting classifications of pathogenicity
rs751258161	5:77,298,816	G/C	—	likely benign
rs761729448	5:77,298,817	C/T	—	uncertain significance
rs767072786	5:77,298,821	C/T	—	uncertain significance
rs2478796267	5:77,298,823	T/C	—	uncertain significance
rs1218354573	5:77,298,834	T/C	—	likely benign
rs535976982	5:77,298,843	C/A	—	uncertain significance
rs748447113	5:77,298,848	A/G	—	likely benign
rs776628092	5:77,298,875	C/T	—	uncertain significance
rs2112028477	5:77,298,884	A/G	—	likely benign
rs1746250917	5:77,298,895	G/A	—	likely benign
rs201198522	5:77,298,901	C/T	—	benign
rs3776923	5:77,299,178	T/G	—	likely benign
rs148223916	5:77,300,609	T/C	regulatory region variant	—
rs77767472	5:77,310,952	A/T	—	benign
rs769957838	5:77,311,215	C/G	—	likely benign
rs372831527	5:77,311,216	G/A	—	likely benign
rs191616060	5:77,311,229	C/A	—	uncertain significance
rs766116144	5:77,311,233	C/T	—	conflicting classifications of pathogenicity
rs2112054033	5:77,311,237	T/C	—	uncertain significance
rs1561354415	5:77,311,242	A/G	—	likely benign
rs764848036	5:77,311,247	C/G	—	uncertain significance
rs554702848	5:77,311,301	T/C	—	uncertain significance
rs781365567	5:77,311,303	A/G	—	uncertain significance
rs2478828040	5:77,311,305	A/G	—	likely benign
rs746152289	5:77,311,311	A/G	—	likely benign
rs780143358	5:77,311,321	T/C	—	uncertain significance
rs1390900388	5:77,311,365	T/C	—	likely benign
rs146503597	5:77,311,370	C/T	—	conflicting classifications of pathogenicity
rs1034040976	5:77,311,371	T/A	—	likely benign
rs1746824105	5:77,311,375	G/A	—	uncertain significance
rs759178337	5:77,311,384	A/G	—	likely benign
rs202232687	5:77,311,387	G/T	—	benign
rs755171790	5:77,316,496	A/G	—	likely benign
rs375250754	5:77,316,506	C/T	—	likely benign
rs779017901	5:77,316,513	C/T	—	uncertain significance
rs746992047	5:77,316,521	T/C	—	uncertain significance
rs2478843255	5:77,316,525	T/C	—	uncertain significance
rs1384216426	5:77,316,539	T/A	—	uncertain significance
rs1248215588	5:77,316,540	C/A	—	uncertain significance
rs1580247265	5:77,316,545	A/G	—	uncertain significance
rs745653147	5:77,316,561	G/T	—	uncertain significance
rs1580247322	5:77,316,576	G/A	—	uncertain significance
rs1199672973	5:77,316,580	C/T	—	likely benign
rs1256709729	5:77,316,586	A/G	—	likely benign
rs139968311	5:77,316,593	T/C	—	conflicting classifications of pathogenicity
rs1747058248	5:77,316,601	A/G	—	likely benign
rs886060770	5:77,316,602	T/C	—	uncertain significance
rs766616397	5:77,316,608	T/C	—	uncertain significance
rs369459422	5:77,316,611	G/A	—	uncertain significance
rs1455100579	5:77,316,625	C/A	—	likely benign
rs779085657	5:77,316,632	A/T	—	likely benign
rs17190102	5:77,316,823	C/T	—	benign
rs752764966	5:77,330,175	T/C	—	likely benign
rs2530803659	5:77,330,179	A/G	—	uncertain significance
rs544214699	5:77,330,181	T/C	—	uncertain significance
rs2530803668	5:77,330,184	C/A	—	likely pathogenic
rs2112091461	5:77,330,186	A/G	—	uncertain significance
rs2530803676	5:77,330,188	A/G	—	uncertain significance
rs750377910	5:77,330,189	A/G	—	conflicting classifications of pathogenicity
rs62001052	5:77,330,199	G/A	—	conflicting classifications of pathogenicity
rs912620993	5:77,330,223	G/A	—	likely benign
rs1263221940	5:77,330,226	A/G	—	likely benign
rs1747711011	5:77,330,247	G/A	—	likely benign
rs1747711727	5:77,330,256	A/G	—	likely benign
rs1022482616	5:77,330,257	G/T	—	uncertain significance
rs1002296977	5:77,330,267	A/G	—	uncertain significance
rs115340604	5:77,330,273	G/A	—	likely benign
rs1747713195	5:77,330,276	A/T	—	likely benign
rs1747713510	5:77,330,278	T/C	—	likely benign
rs2530803850	5:77,330,279	A/G	—	likely benign
rs2291515	5:77,330,496	A/G	—	likely benign
rs75230657	5:77,334,747	T/C	—	likely benign
rs2112099938	5:77,334,847	A/C	—	likely benign
rs951058281	5:77,334,851	G/A	—	likely benign
rs1216229030	5:77,334,852	A/G	—	likely benign

Showing 100 of 699 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.