ELN

elastin

Summary

This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]

Known Variants748 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3757584	7:73,440,695	C/T	—	—
rs537200597	7:73,442,448	G/C	—	uncertain significance
rs41410045	7:73,442,480	T/C	—	benign
rs782267385	7:73,442,481	G/C	—	likely benign
rs1362070751	7:73,442,515	G/A	—	uncertain significance
rs2484435508	7:73,442,518	A/G	—	pathogenic
rs863223518	7:73,442,519	T/C	missense variant	pathogenic
rs782766792	7:73,442,522	C/T	—	uncertain significance
rs782540463	7:73,442,523	G/A	—	likely benign
rs1198683869	7:73,442,525	G/A	—	uncertain significance
rs781784045	7:73,442,531	C/G	—	uncertain significance
rs782452483	7:73,442,532	G/A	—	likely benign
rs542540015	7:73,442,535	G/A	—	likely benign
rs559210020	7:73,442,537	C/T	—	uncertain significance
rs782292334	7:73,442,543	C/T	—	uncertain significance
rs781942461	7:73,442,544	G/A	—	likely benign
rs782223292	7:73,442,545	C/T	—	uncertain significance
rs373864057	7:73,442,550	C/T	—	likely benign
rs149127344	7:73,442,551	G/A	—	uncertain significance
rs367634266	7:73,442,552	G/T	—	conflicting classifications of pathogenicity
rs1554660052	7:73,442,559	C/T	—	likely benign
rs1787872217	7:73,442,562	G/A	—	likely benign
rs1381827132	7:73,442,565	C/G	—	likely benign
rs2484444080	7:73,442,570	T/G	—	uncertain significance
rs782483220	7:73,442,578	C/T	—	uncertain significance
rs142370984	7:73,442,586	C/T	—	likely benign
rs151272992	7:73,442,591	G/A	—	conflicting classifications of pathogenicity
rs1554660123	7:73,442,596	G/A	—	uncertain significance
rs2130830261	7:73,442,600	G/A	—	pathogenic
rs782398296	7:73,442,612	C/T	—	likely benign
rs1261981678	7:73,442,613	G/A	—	likely benign
rs143319334	7:73,442,768	C/A	—	likely benign
rs77408001	7:73,443,012	C/A	intron variant	—
rs868005	7:73,445,114	T/C	intron variant	—
rs884843	7:73,445,789	A/G	intron variant	—
rs58411014	7:73,446,397	A/G	regulatory region variant	—
rs545686066	7:73,449,674	C/T	—	likely benign
rs373683865	7:73,449,676	C/T	—	likely benign
rs782193520	7:73,449,695	G/A	—	likely benign
rs2484780821	7:73,449,698	C/T	—	likely benign
rs782625771	7:73,449,703	G/A	—	uncertain significance
rs782038454	7:73,449,715	G/A	—	uncertain significance
rs781951450	7:73,449,724	C/G	—	uncertain significance
rs782104032	7:73,449,725	T/C	—	likely benign
rs2484782621	7:73,449,728	A/T	—	likely benign
rs55951999	7:73,449,730	G/T	—	uncertain significance
rs2131152526	7:73,449,744	G/A	—	likely pathogenic
rs2484783425	7:73,449,745	G/T	—	likely pathogenic
rs375144839	7:73,449,749	C/T	—	conflicting classifications of pathogenicity
rs1216357938	7:73,449,750	G/A	—	uncertain significance
rs1554664971	7:73,449,754	A/G	—	likely benign
rs28763980	7:73,449,755	T/C	—	benign
rs144223231	7:73,449,760	C/A	—	likely benign
rs782637996	7:73,449,764	C/T	—	likely benign
rs17146001	7:73,449,846	G/A	—	benign
rs535249280	7:73,450,866	T/C	—	likely benign
rs782791376	7:73,450,869	T/C	—	conflicting classifications of pathogenicity
rs782028490	7:73,450,871	C/T	—	likely benign
rs782069123	7:73,450,875	C/G	—	likely benign
rs782721415	7:73,450,878	C/A	—	likely benign
rs368904789	7:73,450,879	C/A	—	likely benign
rs202142516	7:73,450,880	C/G	—	likely benign
rs2484848631	7:73,450,884	G/A	—	likely pathogenic
rs2484848694	7:73,450,885	G/C	—	uncertain significance
rs1789998777	7:73,450,889	T/C	—	likely benign
rs1554665826	7:73,450,891	G/C	—	uncertain significance
rs782477397	7:73,450,895	C/T	—	likely benign
rs144757453	7:73,450,896	G/A	—	uncertain significance
rs2484849975	7:73,450,903	T/C	—	uncertain significance
rs1165907480	7:73,450,906	G/A	—	uncertain significance
rs2484850492	7:73,450,909	G/A	—	uncertain significance
rs200810494	7:73,450,910	A/T	—	conflicting classifications of pathogenicity
rs1584494326	7:73,450,916	T/C	—	pathogenic
rs1554665899	7:73,450,917	G/A	—	uncertain significance
rs782388951	7:73,450,927	A/G	—	conflicting classifications of pathogenicity
rs782096458	7:73,452,035	A/C	splice region variant	pathogenic
rs1411248717	7:73,452,037	C/T	—	uncertain significance
rs376512299	7:73,452,038	G/A	—	likely benign
rs782141308	7:73,452,049	G/T	—	uncertain significance
rs781790610	7:73,452,065	G/A	—	likely benign
rs2484909390	7:73,452,074	G/A	—	uncertain significance
rs782475698	7:73,452,079	A/C	—	likely benign
rs370961040	7:73,452,082	G/C	—	likely benign
rs781859547	7:73,452,086	C/T	—	likely benign
rs374473857	7:73,452,087	G/A	—	likely benign
rs2301995	7:73,452,140	G/A	intron variant	benign
rs2301994	7:73,452,263	G/A	—	benign
rs3823879	7:73,454,791	G/A	intron variant	—
rs3815251	7:73,455,276	T/C	—	benign
rs2286257	7:73,455,384	G/A	—	benign
rs782236638	7:73,455,537	T/C	—	likely benign
rs1005603513	7:73,455,546	T/C	—	uncertain significance
rs372566075	7:73,455,551	G/A	—	uncertain significance
rs2485063913	7:73,455,554	G/C	—	uncertain significance
rs2485064061	7:73,455,556	G/T	—	likely benign
rs1164562093	7:73,455,557	C/T	—	uncertain significance
rs41350445	7:73,455,561	C/T	—	likely benign
rs202194806	7:73,455,562	G/A	—	likely benign
rs782513843	7:73,455,564	G/T	—	uncertain significance
rs1489452334	7:73,455,581	G/A	—	uncertain significance

Showing 100 of 748 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.