PCLO

piccolo presynaptic cytomatrix protein

Summary

The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

Known Variants2,492 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1476945426	7:82,387,894	A/G	—	likely benign
rs141283244	7:82,387,895	T/C	—	likely benign
rs768712198	7:82,387,897	C/A	—	likely benign
rs1790365547	7:82,387,898	G/A	—	uncertain significance
rs539111932	7:82,387,905	T/C	—	uncertain significance
rs2535086551	7:82,387,907	G/A	—	uncertain significance
rs2129467449	7:82,387,920	G/C	—	uncertain significance
rs377710753	7:82,387,941	T/G	—	likely benign
rs2535086800	7:82,387,955	A/T	—	uncertain significance
rs944293598	7:82,387,959	T/G	—	uncertain significance
rs62465931	7:82,387,960	G/A	—	benign
rs1790367655	7:82,387,964	A/G	—	uncertain significance
rs776577677	7:82,387,975	G/A	—	likely benign
rs1790368206	7:82,387,981	A/G	—	likely benign
rs2535086994	7:82,387,987	C/T	—	likely benign
rs752385627	7:82,388,014	A/G	—	likely benign
rs760315969	7:82,388,015	T/C	—	uncertain significance
rs1463959139	7:82,388,021	A/G	—	uncertain significance
rs1454984846	7:82,388,027	A/G	—	uncertain significance
rs1170469639	7:82,388,031	T/C	—	uncertain significance
rs994326003	7:82,388,035	G/T	—	likely benign
rs753307196	7:82,388,051	A/G	—	likely benign
rs13438494	7:82,388,714	T/G	intron variant	—
rs2129467532	7:82,389,935	A/G	—	likely benign
rs748260399	7:82,389,940	A/G	—	likely benign
rs1376708370	7:82,389,942	A/T	—	likely benign
rs57607795	7:82,389,948	G/T	—	benign
rs759531453	7:82,389,960	G/A	—	uncertain significance
rs1464996435	7:82,389,962	G/A	—	uncertain significance
rs905211735	7:82,389,966	G/A	—	uncertain significance
rs2535092255	7:82,389,972	C/T	—	uncertain significance
rs2129467533	7:82,389,973	A/G	—	likely benign
rs370372055	7:82,389,978	T/A	—	uncertain significance
rs763681922	7:82,389,984	T/C	—	uncertain significance
rs569045178	7:82,389,989	C/T	—	uncertain significance
rs2535092365	7:82,389,994	A/C	—	likely benign
rs531524128	7:82,389,995	G/T	—	uncertain significance
rs886336131	7:82,390,000	A/G	—	likely benign
rs1263974938	7:82,390,002	T/C	—	uncertain significance
rs374322393	7:82,390,006	C/T	—	likely benign
rs368259583	7:82,390,011	G/C	—	uncertain significance
rs1266066761	7:82,390,015	T/G	—	likely benign
rs1210574620	7:82,390,016	C/T	—	uncertain significance
rs371856428	7:82,390,027	G/A	—	likely benign
rs1201166621	7:82,390,030	T/C	—	likely benign
rs895143010	7:82,390,037	G/A	—	uncertain significance
rs756125419	7:82,390,055	T/C	—	uncertain significance
rs150397734	7:82,390,060	T/C	—	uncertain significance
rs374602829	7:82,390,065	T/C	—	uncertain significance
rs375631203	7:82,390,071	T/C	—	uncertain significance
rs184652313	7:82,390,072	A/G	—	benign
rs535914782	7:82,390,076	A/G	—	uncertain significance
rs188340731	7:82,390,077	T/A	—	uncertain significance
rs1412059677	7:82,390,079	A/G	—	uncertain significance
rs1260588243	7:82,390,083	A/G	—	uncertain significance
rs201613851	7:82,390,084	T/C	—	uncertain significance
rs763494329	7:82,390,087	T/C	—	likely benign
rs368623048	7:82,390,090	C/A	—	likely benign
rs1164021267	7:82,390,093	A/G	—	likely benign
rs767935340	7:82,390,108	T/A	—	likely benign
rs556875348	7:82,390,119	C/T	—	likely benign
rs1436156232	7:82,390,658	A/G	—	likely benign
rs371927465	7:82,390,662	T/C	—	likely benign
rs1790428750	7:82,390,667	T/C	—	likely benign
rs2129467558	7:82,390,670	G/T	—	uncertain significance
rs747790550	7:82,390,684	G/A	—	uncertain significance
rs1455061005	7:82,390,705	A/G	—	uncertain significance
rs2129467560	7:82,390,720	A/T	—	uncertain significance
rs760089997	7:82,390,734	A/G	—	uncertain significance
rs753113921	7:82,390,738	T/C	—	uncertain significance
rs1790429908	7:82,390,742	T/C	—	likely benign
rs760860025	7:82,390,744	G/T	—	uncertain significance
rs1056519956	7:82,390,750	C/T	—	uncertain significance
rs754083986	7:82,390,751	A/G	—	likely benign
rs374774876	7:82,390,762	T/C	—	uncertain significance
rs199503971	7:82,390,769	C/T	—	likely benign
rs2129467562	7:82,390,777	C/T	—	uncertain significance
rs1364977542	7:82,390,781	C/T	—	likely benign
rs2129467563	7:82,390,786	T/C	—	uncertain significance
rs1196575058	7:82,390,799	C/A	—	uncertain significance
rs2129467565	7:82,390,813	G/A	—	likely benign
rs2535095230	7:82,390,816	G/T	—	likely benign
rs1287595055	7:82,390,824	T/C	—	likely benign
rs73157796	7:82,409,987	G/A	intron variant	—
rs376091074	7:82,416,284	G/A	—	—
rs9655918	7:82,416,315	G/A	intron variant	—
rs752701763	7:82,430,816	T/C	—	likely benign
rs1233145856	7:82,430,838	A/C	—	likely benign
rs569988068	7:82,430,842	T/C	—	likely benign
rs2129468682	7:82,430,848	A/C	—	uncertain significance
rs756988037	7:82,430,850	T/C	—	likely benign
rs2535199981	7:82,430,851	C/T	—	uncertain significance
rs2535200035	7:82,430,863	C/A	—	uncertain significance
rs745347705	7:82,430,864	C/T	—	uncertain significance
rs926295013	7:82,430,876	C/T	—	uncertain significance
rs2535200184	7:82,430,877	A/G	—	likely benign
rs2535200254	7:82,430,893	T/C	—	uncertain significance
rs558871819	7:82,430,894	G/T	—	uncertain significance
rs1791354165	7:82,430,906	C/T	—	uncertain significance
rs766578384	7:82,430,921	A/G	—	likely benign

Showing 100 of 2,492 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.