SPINK5

serine peptidase inhibitor Kazal type 5

Summary

This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

Known Variants843 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2287774	5:147,443,360	G/A	—	benign
rs2287773	5:147,443,443	G/A	—	likely benign
rs74572734	5:147,443,547	A/C	—	benign
rs12522603	5:147,443,589	G/A	—	benign
rs778902700	5:147,443,598	C/T	—	uncertain significance
rs2531633162	5:147,443,609	T/A	—	uncertain significance
rs2127180920	5:147,443,611	A/C	—	uncertain significance
rs1752512482	5:147,443,626	T/C	—	uncertain significance
rs1468320558	5:147,443,628	A/T	—	likely benign
rs1231950922	5:147,443,631	G/A	—	likely benign
rs2127180984	5:147,443,644	G/T	—	uncertain significance
rs770450773	5:147,443,652	C/A	—	pathogenic
rs370369039	5:147,443,653	C/T	—	uncertain significance
rs374054110	5:147,443,655	C/T	—	benign
rs2531633349	5:147,443,670	A/G	—	likely benign
rs761072369	5:147,443,674	G/A	—	likely benign
rs764589272	5:147,443,678	G/A	—	likely benign
rs115476809	5:147,444,771	T/C	—	likely benign
rs2287772	5:147,444,785	A/G	—	benign
rs2531635599	5:147,444,890	T/C	—	likely benign
rs755871798	5:147,444,907	C/A	—	uncertain significance
rs1204188199	5:147,444,910	A/C	—	uncertain significance
rs777592836	5:147,444,913	C/T	—	uncertain significance
rs2127182478	5:147,444,918	A/G	—	uncertain significance
rs1482249008	5:147,444,921	A/T	—	pathogenic
rs778915520	5:147,444,934	A/G	—	conflicting classifications of pathogenicity
rs1131691490	5:147,444,937	T/A	—	pathogenic
rs745312199	5:147,444,938	T/C	—	uncertain significance
rs771730802	5:147,444,940	G/A	—	pathogenic
rs1581043815	5:147,444,943	C/A	—	likely benign
rs2127182530	5:147,444,945	G/A	—	likely benign
rs1465982112	5:147,444,946	C/G	—	likely benign
rs1289755269	5:147,444,948	T/C	—	likely benign
rs1752553020	5:147,444,952	C/G	—	likely benign
rs1057520976	5:147,444,954	G/A	—	likely benign
rs9325061	5:147,444,989	G/A	—	benign
rs2287771	5:147,445,012	T/C	—	benign
rs1609851	5:147,445,023	C/G	—	benign
rs78365969	5:147,445,100	C/T	—	benign
rs1007979	5:147,445,124	A/G	—	benign
rs73269137	5:147,445,141	A/G	—	likely benign
rs1423001	5:147,449,855	A/G	—	benign
rs1160558084	5:147,449,881	C/T	—	likely benign
rs946715933	5:147,449,889	A/G	—	uncertain significance
rs200250655	5:147,449,909	A/T	—	likely benign
rs2531645995	5:147,449,919	A/G	—	uncertain significance
rs73269156	5:147,449,923	G/C	—	benign
rs746648914	5:147,449,926	A/C	—	uncertain significance
rs1025545434	5:147,449,937	C/T	—	conflicting classifications of pathogenicity
rs886039547	5:147,449,940	C/T	stop gained	pathogenic
rs199620733	5:147,449,943	G/T	—	uncertain significance
rs1581049498	5:147,449,966	T/G	—	likely benign
rs773557840	5:147,449,977	T/C	—	uncertain significance
rs771729229	5:147,449,978	G/A	—	uncertain significance
rs1438419399	5:147,449,982	A/G	—	uncertain significance
rs766432990	5:147,449,984	C/T	—	uncertain significance
rs377031902	5:147,449,986	A/G	—	uncertain significance
rs552548594	5:147,449,998	C/T	—	uncertain significance
rs370397387	5:147,449,999	G/T	—	likely benign
rs2531646360	5:147,450,011	A/G	—	uncertain significance
rs1752708600	5:147,450,014	G/A	—	likely pathogenic
rs750310449	5:147,450,016	G/A	—	uncertain significance
rs1488466448	5:147,450,024	G/A	—	likely benign
rs3752677	5:147,450,028	T/C	—	benign
rs2127189734	5:147,450,030	T/C	—	likely benign
rs3752676	5:147,450,085	C/A	—	benign
rs10073775	5:147,450,247	A/G	—	benign
rs1156807	5:147,451,416	A/G	—	benign
rs7445392	5:147,451,451	C/T	—	benign
rs1424448025	5:147,451,701	C/A	—	likely benign
rs1219497521	5:147,451,709	A/C	—	likely pathogenic
rs775544442	5:147,451,711	G/T	—	uncertain significance
rs761010013	5:147,451,712	G/T	—	pathogenic
rs2531649900	5:147,451,731	A/G	—	uncertain significance
rs2531649978	5:147,451,746	A/G	—	uncertain significance
rs1348041325	5:147,451,747	T/A	—	uncertain significance
rs780799549	5:147,451,760	C/G	—	uncertain significance
rs540537833	5:147,451,762	C/T	—	likely benign
rs1212563023	5:147,451,775	C/A	—	uncertain significance
rs1280381742	5:147,451,792	A/G	—	likely benign
rs534369045	5:147,451,794	T/A	—	likely benign
rs55752016	5:147,451,953	T/A	—	likely benign
rs79703213	5:147,452,052	A/G	—	likely benign
rs1363724	5:147,465,629	T/C	—	benign
rs1363725	5:147,465,631	C/T	—	benign
rs752183279	5:147,465,956	T/C	—	likely benign
rs587777749	5:147,465,966	A/T	—	pathogenic
rs1231707335	5:147,465,968	C/T	—	uncertain significance
rs1310041180	5:147,465,970	G/C	—	likely benign
rs777435572	5:147,465,975	G/A	—	uncertain significance
rs1753154694	5:147,465,977	G/A	—	uncertain significance
rs371334869	5:147,465,998	A/G	—	uncertain significance
rs17860502	5:147,466,001	G/A	—	likely benign
rs746365387	5:147,466,002	A/T	—	uncertain significance
rs772706833	5:147,466,013	A/G	—	uncertain significance
rs2113051774	5:147,466,021	T/G	—	likely benign
rs2113051809	5:147,466,023	A/G	—	uncertain significance
rs764853169	5:147,466,026	A/G	—	uncertain significance
rs1753156960	5:147,466,044	G/A	—	uncertain significance
rs2113051975	5:147,466,045	C/T	—	likely benign

Showing 100 of 843 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.