SERPINA1

serpin family A member 1

Summary

The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]

Known Variants412 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs117457896	14:94,833,005	G/A	—	likely benign
rs150670887	14:94,843,037	A/C	regulatory region variant	—
rs877081	14:94,843,083	G/A	—	likely benign
rs746099389	14:94,843,158	C/T	—	uncertain significance
rs758466620	14:94,843,210	C/T	—	uncertain significance
rs79555504	14:94,843,219	G/C	—	uncertain significance
rs56325294	14:94,843,231	G/A	—	likely benign
rs781709902	14:94,843,292	T/A	—	uncertain significance
rs139506803	14:94,843,372	C/T	—	uncertain significance
rs17580	14:94,843,416	A/T	missense variant	pathogenic
rs11568814	14:94,843,455	T/C	—	likely benign
rs886050916	14:94,843,492	A/G	—	uncertain significance
rs78367974	14:94,843,494	G/A	—	uncertain significance
rs9944155	14:94,843,499	C/T	—	uncertain significance
rs886050917	14:94,843,551	G/A	—	uncertain significance
rs11832	14:94,843,565	T/C	regulatory region variant	benign
rs886050918	14:94,843,591	C/T	—	uncertain significance
rs554160611	14:94,843,613	A/G	—	uncertain significance
rs139136785	14:94,843,645	T/C	—	uncertain significance
rs11628917	14:94,843,719	T/C	—	benign
rs576539120	14:94,843,720	C/G	—	uncertain significance
rs1021949490	14:94,843,725	G/A	—	uncertain significance
rs1243166	14:94,843,818	A/G	regulatory region variant	benign
rs184719827	14:94,843,840	G/A	—	uncertain significance
rs1051052	14:94,843,932	G/A	—	benign
rs188391982	14:94,843,933	G/A	—	uncertain significance
rs139984116	14:94,843,994	G/A	—	uncertain significance
rs142149216	14:94,844,045	G/A	—	uncertain significance
rs886050919	14:94,844,061	C/T	—	uncertain significance
rs777765085	14:94,844,090	G/A	—	uncertain significance
rs886050920	14:94,844,092	T/A	—	uncertain significance
rs151205402	14:94,844,108	G/A	—	uncertain significance
rs904880962	14:94,844,159	C/T	—	uncertain significance
rs111349695	14:94,844,286	C/T	—	uncertain significance
rs1243165	14:94,844,305	C/T	—	benign
rs1896481388	14:94,844,317	C/A	—	uncertain significance
rs1595596588	14:94,844,344	T/A	—	uncertain significance
rs529148469	14:94,844,367	G/T	—	uncertain significance
rs566212080	14:94,844,373	G/T	—	uncertain significance
rs1214498546	14:94,844,376	T/G	—	uncertain significance
rs886050921	14:94,844,386	G/A	—	uncertain significance
rs539955367	14:94,844,415	C/A	—	uncertain significance
rs7144409	14:94,844,460	T/C	—	likely benign
rs1243164	14:94,844,470	C/A	3 prime UTR variant	benign
rs1896497491	14:94,844,471	A/C	—	uncertain significance
rs753776140	14:94,844,523	G/A	—	uncertain significance
rs111978668	14:94,844,545	C/G	—	uncertain significance
rs2073333	14:94,844,562	C/T	—	benign
rs138518740	14:94,844,604	G/T	—	uncertain significance
rs886050922	14:94,844,614	A/G	—	uncertain significance
rs1243163	14:94,844,706	A/G	—	conflicting classifications of pathogenicity
rs371674306	14:94,844,768	T/C	—	uncertain significance
rs747590096	14:94,844,776	C/T	—	likely benign
rs72547410	14:94,844,785	G/A	—	uncertain significance
rs1896524249	14:94,844,795	G/T	—	likely benign
rs2139664128	14:94,844,799	G/A	—	uncertain significance
rs1488213352	14:94,844,817	A/G	—	pathogenic
rs149800596	14:94,844,818	T/C	—	likely benign
rs767700105	14:94,844,822	G/A	—	likely benign
rs754885222	14:94,844,832	T/C	—	uncertain significance
rs778747339	14:94,844,835	G/A	—	likely benign
rs766128806	14:94,844,837	A/G	—	conflicting classifications of pathogenicity
rs1303	14:94,844,843	T/G	missense variant	likely benign
rs746728426	14:94,844,864	G/A	—	likely benign
rs199422209	14:94,844,865	G/C	missense variant	pathogenic
rs61761869	14:94,844,866	G/A	missense variant	pathogenic
rs1216502935	14:94,844,867	T/C	—	likely benign
rs121912712	14:94,844,884	C/T	missense variant	pathogenic
rs143329723	14:94,844,885	G/A	—	likely benign
rs569384943	14:94,844,886	G/T	—	uncertain significance
rs12233	14:94,844,887	G/A	—	uncertain significance
rs774551181	14:94,844,888	G/A	—	likely benign
rs764340766	14:94,844,891	G/A	—	likely benign
rs121912713	14:94,844,898	A/C	missense variant	pathogenic
rs2504727390	14:94,844,904	A/G	—	uncertain significance
rs1291036417	14:94,844,907	G/T	—	likely benign
rs148362959	14:94,844,909	C/T	—	conflicting classifications of pathogenicity
rs1566747984	14:94,844,911	C/T	—	likely benign
rs28929473	14:94,844,912	T/A	missense variant	other
rs2139665392	14:94,844,921	G/A	—	likely benign
rs1566748077	14:94,844,922	G/T	—	likely benign
rs752723808	14:94,844,923	C/T	—	uncertain significance
rs376061125	14:94,844,924	C/T	—	likely benign
rs751415975	14:94,844,927	A/G	—	likely benign
rs1378794678	14:94,844,939	C/T	—	conflicting classifications of pathogenicity
rs2504728206	14:94,844,946	T/C	—	likely pathogenic
rs28929474	14:94,844,947	C/T	missense variant	pathogenic
rs201774333	14:94,844,948	G/A	—	conflicting classifications of pathogenicity
rs864622046	14:94,844,949	T/A	—	conflicting classifications of pathogenicity
rs143370956	14:94,844,950	C/G	—	uncertain significance
rs772289957	14:94,844,951	G/A	—	likely benign
rs13868	14:94,844,960	C/A	—	likely benign
rs1802959	14:94,844,965	C/T	missense variant	pathogenic
rs2504728850	14:94,844,966	C/T	—	likely benign
rs796549685	14:94,844,967	T/A	—	benign
rs200945035	14:94,844,968	T/C	—	uncertain significance
rs1555367891	14:94,844,970	T/C	—	likely pathogenic
rs1595598934	14:94,844,973	A/G	—	uncertain significance
rs373630097	14:94,844,974	C/T	—	conflicting classifications of pathogenicity
rs9630	14:94,844,975	G/A	—	likely benign

Showing 100 of 412 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.