PAPPA

pappalysin 1

Summary

This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathway. The encoded protein plays a role in bone formation, inflammation, wound healing and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and growth in various human cancers. [provided by RefSeq, Aug 2017]

Known Variants110 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2490344030	9:118,916,477	A/G	—	uncertain significance
rs1329374402	9:118,916,483	G/A	—	uncertain significance
rs922756108	9:118,916,536	C/G	—	uncertain significance
rs902947256	9:118,916,582	C/G	—	uncertain significance
rs2490344522	9:118,916,588	C/T	—	uncertain significance
rs984156607	9:118,916,657	G/C	—	uncertain significance
rs2490344809	9:118,916,660	A/G	—	uncertain significance
rs2490345042	9:118,916,710	A/G	—	likely benign
rs547307006	9:118,916,713	G/A	—	uncertain significance
rs915528378	9:118,916,716	G/C	—	uncertain significance
rs1284106373	9:118,916,756	G/A	—	uncertain significance
rs1326691595	9:118,916,779	G/A	—	uncertain significance
rs1012793001	9:118,916,796	C/T	—	likely benign
rs10983068	9:118,918,479	C/T	intron variant	—
rs10217651	9:118,923,652	A/G	intron variant	—
rs541801151	9:118,949,454	A/C	—	uncertain significance
rs760690741	9:118,949,462	C/T	—	uncertain significance
rs146292613	9:118,949,480	G/A	—	benign
rs772431336	9:118,949,522	C/T	—	uncertain significance
rs762087043	9:118,949,550	G/A	—	uncertain significance
rs571065606	9:118,949,555	C/G	—	uncertain significance
rs751470271	9:118,949,558	C/A	—	uncertain significance
rs370412661	9:118,949,582	C/T	—	uncertain significance
rs1275132981	9:118,949,604	G/T	—	uncertain significance
rs996794690	9:118,949,711	A/T	—	uncertain significance
rs769780801	9:118,949,760	A/G	—	uncertain significance
rs1156845884	9:118,949,796	A/C	—	uncertain significance
rs371529363	9:118,949,821	A/G	—	uncertain significance
rs370370501	9:118,949,838	C/T	—	uncertain significance
rs1211002333	9:118,950,118	C/A	—	uncertain significance
rs144678054	9:118,950,131	C/T	—	uncertain significance
rs201148082	9:118,950,133	C/T	—	likely benign
rs558894712	9:118,950,171	C/A	—	uncertain significance
rs778522678	9:118,950,205	C/A	—	likely benign
rs774728290	9:118,950,309	C/G	—	uncertain significance
rs151114477	9:118,950,362	G/A	—	likely benign
rs1299152909	9:118,950,383	G/T	—	uncertain significance
rs1035772518	9:118,950,456	A/G	—	uncertain significance
rs2490384938	9:118,950,459	T/A	—	uncertain significance
rs374339400	9:118,950,462	C/G	—	uncertain significance
rs436582	9:118,956,668	A/G	downstream gene variant	—
rs449807	9:118,965,749	T/A	upstream gene variant	—
rs947809099	9:118,973,960	A/G	—	uncertain significance
rs201690145	9:118,973,984	T/C	—	uncertain significance
rs750038910	9:118,974,010	G/A	—	likely benign
rs753309392	9:118,974,036	G/T	—	uncertain significance
rs1458144395	9:118,974,109	G/C	—	uncertain significance
rs1191358806	9:118,974,127	T/C	—	uncertain significance
rs764482965	9:118,982,221	G/A	—	uncertain significance
rs34371232	9:118,982,329	G/C	—	benign
rs138825324	9:118,989,712	A/T	—	uncertain significance
rs763858422	9:118,989,820	G/C	—	uncertain significance
rs1447116436	9:118,997,645	G/A	—	uncertain significance
rs144065173	9:118,997,720	G/T	—	uncertain significance
rs1490604852	9:118,997,732	G/A	—	uncertain significance
rs374066435	9:118,997,754	C/T	—	uncertain significance
rs764252248	9:118,997,804	G/A	—	uncertain significance
rs199874720	9:118,997,909	G/A	—	likely benign
rs377641762	9:119,000,634	G/C	—	—
rs205304	9:119,007,476	T/A	—	—
rs1845062076	9:119,028,155	G/A	—	uncertain significance
rs762216046	9:119,033,672	A/T	—	uncertain significance
rs72754248	9:119,061,396	G/A	intron variant	—
rs779997395	9:119,093,530	G/A	—	uncertain significance
rs1845988506	9:119,093,620	C/T	—	uncertain significance
rs768862780	9:119,094,140	T/G	—	—
rs369776958	9:119,094,688	A/G	—	uncertain significance
rs934592113	9:119,094,717	C/T	—	uncertain significance
rs56276527	9:119,094,789	A/T	—	—
rs774756114	9:119,097,215	A/G	—	uncertain significance
rs182838434	9:119,097,300	C/T	—	likely benign
rs747517327	9:119,097,301	G/A	—	uncertain significance
rs753588067	9:119,106,826	G/T	—	uncertain significance
rs202244318	9:119,106,834	C/G	—	uncertain significance
rs2490668513	9:119,106,856	C/A	—	uncertain significance
rs7020782	9:119,106,881	C/A	missense variant	benign
rs771746130	9:119,106,904	C/T	—	uncertain significance
rs138454284	9:119,106,905	G/A	—	benign
rs142033727	9:119,106,912	C/T	—	likely benign
rs150243003	9:119,106,948	C/T	—	benign
rs771940437	9:119,106,968	A/T	—	uncertain significance
rs912213	9:119,107,708	T/A	—	—
rs2490674252	9:119,109,399	A/C	—	uncertain significance
rs754888530	9:119,109,425	C/T	—	uncertain significance
rs149968427	9:119,109,467	C/T	—	uncertain significance
rs746673762	9:119,115,068	C/T	—	uncertain significance
rs759743807	9:119,115,081	A/G	—	uncertain significance
rs539350327	9:119,115,098	G/A	—	uncertain significance
rs2296069	9:119,115,106	C/T	—	benign
rs55901693	9:119,115,167	A/G	—	likely benign
rs772327403	9:119,115,174	G/A	—	uncertain significance
rs764379532	9:119,115,183	G/A	—	uncertain significance
rs1312160862	9:119,115,902	C/T	—	uncertain significance
rs1207804603	9:119,115,943	G/T	—	uncertain significance
rs545498697	9:119,116,062	A/T	—	uncertain significance
rs751543	9:119,122,342	C/T	intron variant	—
rs12347137	9:119,122,721	A/C	intron variant	—
rs117752286	9:119,124,875	T/C	—	benign
rs200481430	9:119,124,886	G/A	—	likely benign
rs142931748	9:119,124,897	C/T	—	benign

Showing 100 of 110 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.