KLKB1

kallikrein B1

Summary

This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

Known Variants134 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs199476183	4:187,130,017	A/G	splice region variant	pathogenic
rs199476200	4:187,130,085	A/C	missense variant	pathogenic
rs199476201	4:187,130,097	G/T	missense variant	pathogenic
rs199476202	4:187,130,115	C/T	missense variant	pathogenic
rs138444697	4:187,130,126	C/T	missense variant	pathogenic
rs199476203	4:187,130,127	G/A	missense variant	pathogenic
rs199476184	4:187,130,241	—	—	pathogenic
rs199476204	4:187,130,369	C/T	stop gained	pathogenic
rs144109267	4:187,130,414	A/G	missense variant	pathogenic
rs797045181	4:187,130,417	A/G	missense variant	pathogenic
rs146494374	4:187,131,662	C/T	missense variant	pathogenic
rs119103284	4:187,131,740	G/A	missense variant	pathogenic
rs199476205	4:187,131,743	C/T	missense variant	pathogenic
rs12331051	4:187,139,807	C/T	—	—
rs558222157	4:187,140,158	A/C	—	—
rs28797242	4:187,140,276	C/G	—	—
rs4862669	4:187,145,222	G/T	—	—
rs4253238	4:187,148,387	C/T	upstream gene variant	—
rs954965096	4:187,148,742	G/C	—	uncertain significance
rs4253241	4:187,149,233	T/C	—	benign
rs200217461	4:187,149,371	A/C	—	uncertain significance
rs774571178	4:187,149,372	C/T	—	uncertain significance
rs1912826	4:187,149,540	G/A	intron variant	benign
rs3775298	4:187,150,478	A/G	intron variant	—
rs4241815	4:187,152,142	C/T	intron variant	—
rs4241816	4:187,152,327	A/C	—	—
rs1259601559	4:187,153,299	A/G	—	uncertain significance
rs1233053717	4:187,153,332	C/A	—	uncertain significance
rs762131874	4:187,153,397	C/T	—	likely benign
rs1269662873	4:187,153,424	A/G	—	uncertain significance
rs4253243	4:187,153,511	C/T	—	benign
rs4241818	4:187,153,786	T/G	—	—
rs2304596	4:187,154,873	T/C	—	benign
rs146728804	4:187,155,164	G/A	—	uncertain significance
rs4253248	4:187,155,488	G/A	—	benign
rs566257517	4:187,156,617	G/A	—	—
rs4241819	4:187,157,140	C/T	intron variant	—
rs4861708	4:187,157,233	G/A	intron variant	—
rs4253252	4:187,157,458	T/G	intron variant	—
rs749710928	4:187,157,941	A/C	—	uncertain significance
rs121964949	4:187,157,943	C/T	stop gained	pathogenic
rs121964952	4:187,157,973	G/A	missense variant	pathogenic
rs148183376	4:187,158,031	C/G	—	uncertain significance
rs3733402	4:187,158,034	G/A	missense variant	pathogenic
rs146204944	4:187,158,036	A/G	—	uncertain significance
rs1202689298	4:187,158,052	T/C	—	uncertain significance
rs368052024	4:187,158,084	G/C	—	uncertain significance
rs4253256	4:187,159,282	G/C	—	benign
rs61748604	4:187,159,405	T/C	—	likely benign
rs4253350	4:187,159,440	A/G	—	likely benign
rs4253257	4:187,159,453	G/A	—	likely benign
rs199794258	4:187,159,468	A/G	—	uncertain significance
rs142304505	4:187,159,473	C/T	—	benign
rs12509937	4:187,160,250	C/G	—	—
rs139276089	4:187,160,394	G/A	—	—
rs71640034	4:187,161,048	G/T	—	—
rs71640035	4:187,161,061	T/G	intron variant	—
rs71640036	4:187,161,120	G/T	intron variant	—
rs66530140	4:187,161,211	T/G	—	—
rs35984397	4:187,161,501	G/A	intron variant	—
rs146809417	4:187,161,998	C/T	regulatory region variant	—
rs4253271	4:187,163,612	G/C	—	—
rs4253272	4:187,163,614	C/T	intron variant	—
rs536819948	4:187,163,707	A/G	—	—
rs61000956	4:187,164,081	T/C	intron variant	—
rs4253281	4:187,164,349	G/A	intron variant	—
rs4253282	4:187,164,399	C/T	intron variant	—
rs4253283	4:187,165,211	T/C	intron variant	—
rs185404743	4:187,166,716	G/A	regulatory region variant	—
rs558262174	4:187,167,577	C/T	—	—
rs4253299	4:187,171,355	A/G	—	benign
rs4253373	4:187,171,404	C/A	—	conflicting classifications of pathogenicity
rs188038815	4:187,171,405	A/G	—	benign
rs758347925	4:187,171,453	G/T	—	uncertain significance
rs1021315699	4:187,171,477	T/C	—	uncertain significance
rs142420360	4:187,171,487	T/A	—	likely pathogenic
rs2304595	4:187,172,280	A/G	—	benign
rs146650319	4:187,172,386	C/T	—	uncertain significance
rs4253376	4:187,172,420	C/G	—	likely benign
rs113884104	4:187,172,422	A/G	—	benign
rs763736980	4:187,172,434	A/G	—	uncertain significance
rs180933633	4:187,172,442	A/G	—	uncertain significance
rs751612853	4:187,172,471	G/T	—	uncertain significance
rs4253377	4:187,172,703	T/G	—	benign
rs771385385	4:187,172,712	G/T	—	likely pathogenic
rs544912749	4:187,172,718	A/G	—	uncertain significance
rs142408237	4:187,172,728	A/G	—	uncertain significance
rs145972257	4:187,172,787	G/A	—	uncertain significance
rs4253379	4:187,172,943	A/G	—	likely benign
rs747716379	4:187,172,953	C/T	—	uncertain significance
rs1738695929	4:187,173,006	G/A	—	uncertain significance
rs368165642	4:187,173,011	C/T	—	likely benign
rs4253301	4:187,173,012	T/G	—	benign
rs751932341	4:187,173,194	C/T	—	uncertain significance
rs1303557405	4:187,173,222	G/A	—	pathogenic
rs777274175	4:187,173,227	G/C	—	uncertain significance
rs121964950	4:187,173,231	G/A	stop gained	pathogenic
rs147666093	4:187,173,259	G/C	—	uncertain significance
rs186254196	4:187,173,285	G/A	missense variant	pathogenic
rs148974369	4:187,173,322	T/C	—	likely benign

Showing 100 of 134 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.