PLB1

phospholipase B1

Summary

This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]

Known Variants153 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs367544358	2:28,718,992	G/A	—	likely benign
rs147795417	2:28,734,807	G/A	intron variant	—
rs148031591	2:28,741,357	T/C	—	uncertain significance
rs140566500	2:28,741,376	G/C	—	uncertain significance
rs145379829	2:28,748,165	A/G	—	benign
rs750282006	2:28,748,791	G/A	—	uncertain significance
rs2465543586	2:28,752,193	A/T	—	uncertain significance
rs146542771	2:28,752,248	G/A	—	likely benign
rs144640748	2:28,752,272	T/C	—	likely benign
rs147363629	2:28,752,611	G/T	—	uncertain significance
rs75175520	2:28,752,623	G/T	—	benign
rs370660301	2:28,752,654	T/G	—	likely benign
rs372683206	2:28,754,994	A/T	—	uncertain significance
rs746840393	2:28,755,021	G/A	—	uncertain significance
rs78168838	2:28,755,043	G/A	—	likely benign
rs182623678	2:28,755,730	G/A	intron variant	—
rs189293993	2:28,757,492	G/A	intron variant	—
rs148820032	2:28,758,432	C/T	intron variant	—
rs1246885515	2:28,761,198	G/T	—	uncertain significance
rs377283820	2:28,761,199	C/T	—	uncertain significance
rs149462466	2:28,761,204	G/A	—	likely benign
rs1671986037	2:28,761,210	G/A	—	uncertain significance
rs1447505668	2:28,761,238	T/C	—	uncertain significance
rs562933212	2:28,762,032	G/A	—	uncertain significance
rs144349565	2:28,763,240	C/A	—	uncertain significance
rs202064271	2:28,763,274	G/A	—	uncertain significance
rs200951919	2:28,764,572	A/C	—	likely benign
rs1182511073	2:28,764,578	C/T	—	uncertain significance
rs372119493	2:28,764,603	C/A	—	uncertain significance
rs769983882	2:28,764,659	C/G	—	uncertain significance
rs367557336	2:28,764,677	C/T	—	uncertain significance
rs142972476	2:28,766,083	A/T	—	uncertain significance
rs2465598504	2:28,771,766	A/C	—	uncertain significance
rs144322203	2:28,771,771	C/T	—	likely benign
rs185895091	2:28,771,825	C/G	intron variant	—
rs77183296	2:28,772,887	A/G	—	benign
rs1198048347	2:28,775,844	C/T	—	uncertain significance
rs148098299	2:28,776,567	G/C	—	—
rs189269585	2:28,778,300	C/T	intron variant	—
rs113587759	2:28,781,784	G/T	intron variant	—
rs568199182	2:28,783,378	G/C	—	—
rs185327924	2:28,785,937	G/A	—	uncertain significance
rs2465632322	2:28,785,940	A/G	—	uncertain significance
rs765559609	2:28,788,189	G/A	—	uncertain significance
rs2465637112	2:28,788,196	C/G	—	uncertain significance
rs780587584	2:28,788,219	A/T	—	uncertain significance
rs200042736	2:28,789,664	G/C	—	uncertain significance
rs2465640997	2:28,789,704	C/A	—	uncertain significance
rs550975951	2:28,792,236	C/T	—	—
rs147268778	2:28,795,455	A/G	intron variant	—
rs758586763	2:28,796,157	C/T	—	uncertain significance
rs116673483	2:28,796,182	G/A	—	benign
rs181120292	2:28,799,465	C/G	—	—
rs772387941	2:28,802,506	C/A	—	uncertain significance
rs114238908	2:28,802,544	C/T	—	likely benign
rs200695930	2:28,802,546	A/G	—	uncertain significance
rs369628320	2:28,802,561	T/C	—	uncertain significance
rs775700081	2:28,804,944	T/C	—	uncertain significance
rs72863353	2:28,805,314	G/A	—	benign
rs2465692484	2:28,805,332	T/A	—	uncertain significance
rs377534411	2:28,805,347	G/A	—	likely benign
rs370530699	2:28,808,632	C/G	—	uncertain significance
rs150079390	2:28,808,668	A/G	—	uncertain significance
rs139304435	2:28,808,686	A/G	—	uncertain significance
rs146254449	2:28,812,323	A/T	—	uncertain significance
rs777134176	2:28,812,329	C/G	—	uncertain significance
rs113695605	2:28,812,420	C/T	—	uncertain significance
rs367568773	2:28,812,572	C/T	—	uncertain significance
rs750361959	2:28,812,618	G/A	—	uncertain significance
rs751363350	2:28,812,878	C/G	—	uncertain significance
rs377415436	2:28,812,881	G/T	—	uncertain significance
rs75007235	2:28,812,894	C/T	—	benign
rs142897830	2:28,812,900	G/A	—	conflicting classifications of pathogenicity
rs138844252	2:28,812,911	G/A	—	uncertain significance
rs75380829	2:28,814,005	G/C	—	benign
rs73922186	2:28,814,008	G/A	—	benign
rs2465278356	2:28,814,009	T/C	—	uncertain significance
rs72850431	2:28,815,518	G/A	—	benign
rs374685347	2:28,816,543	C/T	—	likely benign
rs772130117	2:28,816,578	G/A	—	uncertain significance
rs1682398140	2:28,816,580	C/A	—	uncertain significance
rs764796646	2:28,816,599	C/G	—	uncertain significance
rs370932074	2:28,816,605	C/T	—	uncertain significance
rs199625807	2:28,820,864	C/T	—	likely benign
rs552024753	2:28,820,882	G/C	—	uncertain significance
rs138300319	2:28,820,884	C/T	—	benign
rs143063044	2:28,821,560	G/T	—	uncertain significance
rs780380260	2:28,821,567	C/T	—	uncertain significance
rs2465299328	2:28,821,576	C/G	—	uncertain significance
rs148245769	2:28,821,579	A/G	—	likely benign
rs61755881	2:28,821,585	C/T	—	likely benign
rs115240682	2:28,821,588	A/T	—	benign
rs2465299381	2:28,821,594	T/C	—	uncertain significance
rs554962779	2:28,821,611	C/G	—	uncertain significance
rs10201128	2:28,821,614	G/A	—	benign
rs377536483	2:28,823,712	G/T	—	uncertain significance
rs149568405	2:28,823,715	G/T	—	uncertain significance
rs1167378814	2:28,824,130	C/A	—	uncertain significance
rs778980315	2:28,824,159	T/G	—	uncertain significance
rs143535260	2:28,824,163	C/T	—	benign

Showing 100 of 153 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.