LPIN1

lipin 1

Summary

This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]

Known Variants594 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4374337	2:11,817,362	T/G	—	benign
rs12477584	2:11,817,364	G/A	—	benign
rs80226034	2:11,817,474	A/C	—	likely benign
rs74422146	2:11,817,705	A/G	—	benign
rs571047329	2:11,817,795	C/T	—	likely benign
rs4669769	2:11,817,812	C/G	—	benign
rs145228255	2:11,817,818	G/A	—	likely benign
rs2545932493	2:11,817,859	G/T	—	uncertain significance
rs144852118	2:11,817,983	G/T	—	likely benign
rs11694975	2:11,818,019	G/A	—	benign
rs115915240	2:11,818,025	T/C	—	likely benign
rs147928976	2:11,818,052	G/C	—	likely benign
rs11695025	2:11,818,129	G/A	—	benign
rs13398067	2:11,853,583	G/T	—	benign
rs56122279	2:11,853,585	C/G	—	benign
rs138163577	2:11,853,597	A/G	—	likely benign
rs73181378	2:11,853,722	T/C	—	benign
rs10179409	2:11,853,755	G/A	—	benign
rs12465629	2:11,853,774	T/C	—	benign
rs58166101	2:11,853,843	C/T	—	likely benign
rs4614906	2:11,853,913	G/A	—	benign
rs62113260	2:11,853,963	C/T	—	benign
rs4640359	2:11,853,964	G/A	—	benign
rs12465630	2:11,853,988	A/T	—	benign
rs10182021	2:11,854,012	G/A	—	benign
rs4668739	2:11,854,099	C/T	—	benign
rs555800956	2:11,873,676	G/A	—	—
rs56788115	2:11,881,198	A/C	—	benign
rs139675516	2:11,881,420	C/T	—	likely benign
rs72773975	2:11,881,809	G/T	—	benign
rs72773976	2:11,881,845	A/G	—	likely benign
rs545733054	2:11,886,732	T/G	—	uncertain significance
rs886054795	2:11,886,738	G/A	—	uncertain significance
rs935261030	2:11,886,772	A/G	—	uncertain significance
rs564382112	2:11,886,781	A/G	—	uncertain significance
rs1042925022	2:11,886,792	C/A	—	uncertain significance
rs576446683	2:11,886,796	C/T	—	uncertain significance
rs1462335986	2:11,886,801	A/G	—	uncertain significance
rs11693809	2:11,890,138	T/G	—	—
rs10192566	2:11,890,428	C/G	intron variant	—
rs150914255	2:11,905,390	G/C	—	likely benign
rs114388723	2:11,905,467	C/T	—	likely benign
rs73917123	2:11,905,498	C/T	—	benign
rs7599595	2:11,905,638	T/G	—	benign
rs200022895	2:11,905,650	G/T	—	likely benign
rs777836868	2:11,905,676	C/T	—	conflicting classifications of pathogenicity
rs367756216	2:11,905,677	G/A	—	uncertain significance
rs752905024	2:11,905,691	C/T	—	conflicting classifications of pathogenicity
rs146180669	2:11,905,709	C/T	—	conflicting classifications of pathogenicity
rs199755819	2:11,905,710	G/A	—	uncertain significance
rs757663910	2:11,905,715	G/A	—	likely benign
rs137942440	2:11,905,739	C/T	—	conflicting classifications of pathogenicity
rs150673063	2:11,905,740	G/A	—	uncertain significance
rs1670738355	2:11,905,758	A/T	—	uncertain significance
rs774490262	2:11,905,777	G/A	—	uncertain significance
rs149819112	2:11,905,786	A/G	—	uncertain significance
rs886054796	2:11,905,791	A/G	—	uncertain significance
rs192688285	2:11,905,805	C/G	—	conflicting classifications of pathogenicity
rs1344457697	2:11,905,815	G/A	—	uncertain significance
rs758821832	2:11,905,818	C/T	—	uncertain significance
rs766980528	2:11,905,819	G/A	—	uncertain significance
rs140179571	2:11,905,843	G/A	—	uncertain significance
rs747835893	2:11,905,848	C/T	—	pathogenic
rs755913999	2:11,905,849	G/A	—	uncertain significance
rs10209969	2:11,905,876	C/T	—	benign
rs1024279493	2:11,905,877	G/A	—	likely benign
rs201012369	2:11,905,878	G/C	—	benign
rs143209316	2:11,906,006	T/C	—	likely benign
rs56187608	2:11,906,030	C/T	—	benign
rs75403163	2:11,906,049	A/G	—	benign
rs78800346	2:11,906,056	A/C	—	benign
rs138249656	2:11,907,792	C/G	—	likely benign
rs45509591	2:11,907,842	C/T	—	benign
rs75259222	2:11,907,846	G/T	—	likely benign
rs2546083545	2:11,907,887	A/G	—	likely pathogenic
rs1394823879	2:11,907,895	A/G	—	uncertain significance
rs987368907	2:11,907,941	A/G	—	uncertain significance
rs1039422414	2:11,907,961	G/C	—	uncertain significance
rs372806598	2:11,907,993	G/T	—	likely benign
rs899633626	2:11,907,998	G/T	—	likely benign
rs115718398	2:11,908,138	T/C	—	likely benign
rs555233738	2:11,911,463	C/T	—	likely benign
rs772683752	2:11,911,511	T/G	—	uncertain significance
rs894489248	2:11,911,514	A/G	—	uncertain significance
rs140846512	2:11,911,518	G/T	—	conflicting classifications of pathogenicity
rs1024372611	2:11,911,521	C/T	—	likely benign
rs1367409091	2:11,911,524	C/T	—	likely benign
rs559216133	2:11,911,530	C/A	—	likely benign
rs138781941	2:11,911,550	C/T	—	uncertain significance
rs533069325	2:11,911,551	G/A	—	likely benign
rs779922431	2:11,911,576	G/A	—	uncertain significance
rs757466722	2:11,911,613	C/T	—	uncertain significance
rs1373294657	2:11,911,614	G/A	—	likely benign
rs75945731	2:11,911,629	C/T	—	benign
rs2546092406	2:11,911,632	T/A	—	likely benign
rs145629147	2:11,911,638	C/T	—	conflicting classifications of pathogenicity
rs201744351	2:11,911,643	C/T	—	conflicting classifications of pathogenicity
rs764921555	2:11,911,644	G/A	—	likely benign
rs1671837772	2:11,911,645	C/T	—	uncertain significance
rs371419134	2:11,911,646	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 594 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.