SERPINB8

serpin family B member 8

Summary

The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]

Known Variants70 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs374612640	18:61,645,544	T/C	missense variant	pathogenic
rs2050615457	18:61,645,577	C/G	—	uncertain significance
rs61735438	18:61,645,623	C/T	—	benign
rs117937840	18:61,645,628	T/C	—	benign
rs567770868	18:61,645,672	A/G	—	uncertain significance
rs202235102	18:61,647,063	T/C	—	uncertain significance
rs1944270	18:61,647,069	G/A	—	benign
rs111432786	18:61,647,120	T/G	—	benign
rs1011619190	18:61,647,154	G/C	—	uncertain significance
rs150067519	18:61,647,170	C/T	—	likely benign
rs1944269	18:61,647,266	C/T	—	benign
rs1944268	18:61,647,479	T/A	—	benign
rs79902145	18:61,648,725	C/T	—	benign
rs73484263	18:61,648,837	G/A	—	benign
rs202188705	18:61,649,003	T/A	—	uncertain significance
rs748019551	18:61,649,010	T/G	—	uncertain significance
rs200805347	18:61,649,038	G/A	—	likely benign
rs2511735065	18:61,649,078	A/G	—	uncertain significance
rs12605976	18:61,649,170	G/A	—	benign
rs11537989	18:61,650,865	A/G	—	benign
rs2511739035	18:61,650,923	T/C	—	likely benign
rs144634049	18:61,650,935	A/G	—	uncertain significance
rs755444461	18:61,650,949	C/G	—	likely benign
rs375766835	18:61,650,952	C/T	—	likely benign
rs146695124	18:61,650,953	G/A	—	likely benign
rs199724397	18:61,650,962	A/G	—	likely benign
rs6567409	18:61,652,035	A/G	—	benign
rs200141903	18:61,652,322	G/A	—	benign
rs1184494058	18:61,652,372	A/G	—	uncertain significance
rs765624844	18:61,652,383	G/A	—	likely benign
rs868225991	18:61,652,384	G/C	—	uncertain significance
rs201264307	18:61,652,417	T/C	—	uncertain significance
rs781507596	18:61,652,418	A/G	—	uncertain significance
rs376344450	18:61,652,444	A/T	—	uncertain significance
rs141770995	18:61,652,454	C/G	—	uncertain significance
rs565450690	18:61,652,467	G/A	—	likely benign
rs983037446	18:61,652,474	G/A	—	uncertain significance
rs57638595	18:61,652,574	T/C	—	benign
rs72945626	18:61,652,719	T/G	—	benign
rs73484274	18:61,653,570	C/G	—	benign
rs756718045	18:61,654,153	T/G	—	uncertain significance
rs199920013	18:61,654,177	G/T	—	uncertain significance
rs149386291	18:61,654,183	G/A	—	uncertain significance
rs776743892	18:61,654,196	G/C	—	uncertain significance
rs568953276	18:61,654,226	A/G	—	uncertain significance
rs144666367	18:61,654,237	C/T	stop gained	pathogenic
rs74359148	18:61,654,238	G/A	—	uncertain significance
rs771466710	18:61,654,253	T/C	—	likely benign
rs759606314	18:61,654,255	G/C	—	uncertain significance
rs3169983	18:61,654,297	A/G	—	benign
rs769870269	18:61,654,305	G/T	—	uncertain significance
rs774569519	18:61,654,322	A/G	—	uncertain significance
rs3744958	18:61,654,329	C/T	—	benign
rs368066827	18:61,654,360	G/T	—	uncertain significance
rs140176524	18:61,654,375	G/A	—	uncertain significance
rs150328649	18:61,654,402	C/T	—	uncertain significance
rs35382440	18:61,654,404	G/A	—	likely benign
rs144873303	18:61,654,409	G/T	—	uncertain significance
rs932167332	18:61,654,422	A/C	—	likely benign
rs3826616	18:61,654,463	A/G	—	benign
rs1478245435	18:61,654,465	C/T	—	uncertain significance
rs760986937	18:61,654,475	A/G	—	uncertain significance
rs1331287992	18:61,654,480	A/G	—	uncertain significance
rs758522095	18:61,654,496	G/A	—	uncertain significance
rs185375884	18:61,657,411	G/C	downstream gene variant	—
rs111399923	18:61,657,928	G/C	downstream gene variant	—
rs150189505	18:61,658,988	G/A	downstream gene variant	—
rs143302780	18:61,661,818	G/T	intron variant	—
rs138249947	18:61,675,504	T/A	downstream gene variant	—
rs77112857	18:61,685,653	T/C	intergenic variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.