TMPRSS6

transmembrane serine protease 6

Summary

The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Known Variants245 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs145137288	22:37,461,540	G/C	—	benign
rs139014458	22:37,461,544	G/T	—	likely benign
rs142181201	22:37,461,574	A/G	—	benign
rs117575523	22:37,461,617	G/C	—	benign
rs560949530	22:37,461,621	G/A	—	uncertain significance
rs6000549	22:37,461,709	G/A	—	likely benign
rs886057490	22:37,461,817	A/C	—	uncertain significance
rs1926220781	22:37,461,869	A/T	—	uncertain significance
rs781781005	22:37,461,908	A/T	—	uncertain significance
rs886057491	22:37,461,980	G/A	—	uncertain significance
rs116795891	22:37,462,034	G/A	—	benign
rs146358284	22:37,462,048	C/A	—	likely benign
rs199957731	22:37,462,085	A/G	—	uncertain significance
rs182366825	22:37,462,096	C/T	—	uncertain significance
rs2146016503	22:37,462,122	A/C	—	likely pathogenic
rs140207191	22:37,462,155	C/T	—	uncertain significance
rs2517711257	22:37,462,157	G/A	—	uncertain significance
rs139105452	22:37,462,173	T/C	—	conflicting classifications of pathogenicity
rs763408976	22:37,462,177	G/A	—	likely benign
rs764514331	22:37,462,182	A/G	—	uncertain significance
rs371014130	22:37,462,190	C/T	—	uncertain significance
rs750675992	22:37,462,196	C/T	—	uncertain significance
rs73886915	22:37,462,210	G/A	—	benign
rs762126043	22:37,462,251	T/G	—	uncertain significance
rs2517711757	22:37,462,257	C/G	—	uncertain significance
rs35851175	22:37,462,632	C/G	—	benign
rs202222895	22:37,462,851	G/A	—	uncertain significance
rs763966214	22:37,462,859	G/T	—	uncertain significance
rs780669842	22:37,462,891	C/T	—	uncertain significance
rs371794539	22:37,462,912	C/T	—	uncertain significance
rs778294000	22:37,462,918	G/A	—	uncertain significance
rs2235321	22:37,462,926	A/G	—	benign
rs761474405	22:37,462,931	G/A	—	uncertain significance
rs855791	22:37,462,936	A/G	missense variant	benign
rs779531754	22:37,462,940	C/T	—	uncertain significance
rs144065667	22:37,462,941	G/A	—	likely benign
rs2517714281	22:37,462,952	C/A	—	uncertain significance
rs775869554	22:37,462,982	G/A	—	pathogenic
rs146767495	22:37,462,988	C/T	—	uncertain significance
rs143878335	22:37,462,989	G/A	—	likely benign
rs80252000	22:37,464,655	C/G	—	benign
rs73415539	22:37,465,094	G/A	—	benign
rs786205059	22:37,465,112	C/G	—	pathogenic
rs118004991	22:37,465,114	G/A	—	benign
rs752889957	22:37,465,118	T/G	—	uncertain significance
rs115310908	22:37,465,121	C/A	—	likely benign
rs770790879	22:37,465,127	G/A	—	uncertain significance
rs1488283715	22:37,465,129	G/A	—	likely benign
rs754321694	22:37,465,149	A/G	—	uncertain significance
rs200332661	22:37,465,152	G/A	—	benign
rs375189210	22:37,465,168	G/C	—	conflicting classifications of pathogenicity
rs1239607657	22:37,465,203	C/T	—	uncertain significance
rs1384127820	22:37,465,212	A/G	—	uncertain significance
rs565997258	22:37,465,222	C/T	—	uncertain significance
rs1359150426	22:37,465,227	G/A	—	uncertain significance
rs757296036	22:37,465,231	G/A	—	likely benign
rs778666347	22:37,465,262	C/A	—	uncertain significance
rs1926663670	22:37,465,375	G/A	—	uncertain significance
rs766518367	22:37,466,531	C/T	—	uncertain significance
rs758237786	22:37,466,564	G/A	—	uncertain significance
rs145814440	22:37,466,565	A/G	—	benign
rs137853123	22:37,466,597	G/A	stop gained	pathogenic
rs757002229	22:37,466,641	G/C	—	uncertain significance
rs148129773	22:37,466,678	C/T	—	uncertain significance
rs777017934	22:37,466,704	G/A	—	likely benign
rs76686578	22:37,466,936	G/A	—	benign
rs200801061	22:37,466,947	A/G	—	likely benign
rs184024899	22:37,466,962	G/A	—	uncertain significance
rs143441292	22:37,466,973	G/A	—	uncertain significance
rs375396615	22:37,466,977	C/T	—	uncertain significance
rs1402839481	22:37,466,985	C/A	—	uncertain significance
rs78174698	22:37,466,992	G/A	—	benign
rs150953057	22:37,466,994	C/T	—	benign
rs140758411	22:37,466,995	G/A	—	uncertain significance
rs76970337	22:37,467,001	C/T	—	likely benign
rs201244227	22:37,467,009	G/T	—	uncertain significance
rs5756504	22:37,467,270	C/T	intron variant	—
rs5756505	22:37,467,354	G/C	intron variant	—
rs5756506	22:37,467,392	G/C	intron variant	—
rs139787318	22:37,468,087	A/G	intron variant	—
rs6000553	22:37,469,192	A/T	—	—
rs201456096	22:37,469,555	G/A	—	benign
rs786205058	22:37,469,571	C/T	—	pathogenic
rs2146057214	22:37,469,580	C/T	—	likely pathogenic
rs387907018	22:37,469,590	C/T	missense variant	pathogenic
rs4820268	22:37,469,591	G/A	synonymous variant	benign
rs137853120	22:37,469,593	C/T	missense variant	pathogenic
rs752713169	22:37,469,599	C/T	—	uncertain significance
rs138915369	22:37,469,634	G/A	—	conflicting classifications of pathogenicity
rs143746371	22:37,469,673	G/A	—	uncertain significance
rs13055107	22:37,469,821	A/G	—	benign
rs148226926	22:37,470,032	G/A	intron variant	—
rs2076085	22:37,470,041	C/G	—	—
rs2413450	22:37,470,224	T/A	—	—
rs2072860	22:37,470,604	G/A	—	benign
rs111807510	22:37,470,635	G/A	—	benign
rs78640241	22:37,470,638	C/T	—	benign
rs79816125	22:37,470,640	A/G	—	benign
rs546574834	22:37,470,651	G/A	—	conflicting classifications of pathogenicity
rs2517741884	22:37,470,678	G/C	—	uncertain significance

Showing 100 of 245 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.