NLRP7

NLR family pyrin domain containing 7

Summary

This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants268 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs199475831	19:55,434,734	C/T	—	not provided
rs886054631	19:55,434,925	C/T	—	uncertain significance
rs775865	19:55,434,928	C/G	—	likely benign
rs201167539	19:55,435,064	C/T	—	uncertain significance
rs184844567	19:55,435,088	G/A	—	uncertain significance
rs115724298	19:55,435,103	G/A	—	uncertain significance
rs144955489	19:55,435,139	G/A	—	uncertain significance
rs7256020	19:55,435,140	T/C	—	likely benign
rs749456317	19:55,435,146	C/T	—	uncertain significance
rs2515645248	19:55,435,153	A/G	—	likely benign
rs1443910848	19:55,435,154	T/C	—	uncertain significance
rs540923289	19:55,435,191	C/G	—	uncertain significance
rs773515680	19:55,435,192	T/G	—	uncertain significance
rs754015553	19:55,435,204	C/G	—	uncertain significance
rs752949415	19:55,435,227	C/T	—	uncertain significance
rs269931	19:55,438,831	T/G	—	not provided
rs269932	19:55,438,850	A/G	—	not provided
rs104895542	19:55,438,940	A/C	—	not provided
rs148164395	19:55,439,017	G/A	—	likely benign
rs104895523	19:55,439,063	A/G	—	not provided
rs269933	19:55,439,166	T/C	—	benign
rs775870	19:55,439,168	C/G	—	benign
rs116109745	19:55,439,171	G/A	—	not provided
rs104895517	19:55,439,177	A/C	—	not provided
rs104895522	19:55,439,180	G/A	—	not provided
rs775871	19:55,439,278	G/A	—	not provided
rs12979871	19:55,439,321	C/T	—	not provided
rs269935	19:55,439,371	A/G	—	not provided
rs269936	19:55,439,455	G/T	—	not provided
rs269937	19:55,439,472	T/C	—	not provided
rs534059	19:55,439,537	C/A	—	not provided
rs35932435	19:55,439,542	T/C	—	not provided
rs617543	19:55,439,545	G/A	—	not provided
rs175092	19:55,439,639	A/G	—	not provided
rs775872	19:55,439,666	G/A	—	not provided
rs79711969	19:55,439,702	T/C	—	not provided
rs269938	19:55,439,821	T/G	—	not provided
rs269939	19:55,439,838	A/G	—	not provided
rs269940	19:55,440,357	G/A	—	not provided
rs269948	19:55,441,643	C/T	—	not provided
rs104895516	19:55,441,696	A/T	—	not provided
rs647844	19:55,441,741	A/G	—	not provided
rs647845	19:55,441,744	C/T	—	not provided
rs104895518	19:55,441,810	A/G	—	not provided
rs104895541	19:55,441,841	G/A	—	not provided
rs104895513	19:55,441,865	A/C	—	not provided
rs147507421	19:55,441,871	G/T	—	uncertain significance
rs1476636367	19:55,441,874	G/A	—	uncertain significance
rs201379032	19:55,441,889	T/A	—	uncertain significance
rs269950	19:55,441,902	T/C	—	benign
rs371741023	19:55,441,927	C/T	—	uncertain significance
rs61750468	19:55,441,956	G/A	—	likely benign
rs768641374	19:55,441,960	G/T	—	uncertain significance
rs61746780	19:55,441,971	G/A	—	likely benign
rs371132510	19:55,441,973	C/T	—	uncertain significance
rs2068636165	19:55,441,982	G/A	—	uncertain significance
rs269951	19:55,441,995	A/G	—	benign
rs2515742482	19:55,441,996	T/C	—	uncertain significance
rs2515743191	19:55,442,023	C/T	—	uncertain significance
rs269952	19:55,442,280	A/C	—	not provided
rs269954	19:55,442,398	C/A	—	not provided
rs269955	19:55,443,424	A/G	—	not provided
rs104895562	19:55,444,823	C/T	—	not provided
rs1437108333	19:55,445,028	G/C	—	uncertain significance
rs886054632	19:55,445,031	G/A	—	uncertain significance
rs139417508	19:55,445,037	G/A	—	likely benign
rs2068771944	19:55,445,075	C/A	—	uncertain significance
rs758672812	19:55,445,094	G/A	—	uncertain significance
rs7245955	19:55,445,233	T/C	—	not provided
rs12461151	19:55,445,288	C/T	—	not provided
rs539777504	19:55,445,875	T/C	—	uncertain significance
rs150034626	19:55,445,884	C/T	—	likely benign
rs761989288	19:55,445,889	C/G	—	uncertain significance
rs371671539	19:55,445,908	A/C	—	uncertain significance
rs2068817265	19:55,445,926	A/G	—	uncertain significance
rs200965650	19:55,445,944	C/T	—	conflicting classifications of pathogenicity
rs61742869	19:55,445,945	G/A	—	benign
rs768473188	19:55,445,955	C/T	—	uncertain significance
rs772242457	19:55,445,964	G/A	—	likely benign
rs773367585	19:55,445,967	G/A	—	uncertain significance
rs104895558	19:55,445,994	C/T	—	not provided
rs61744426	19:55,446,003	C/T	—	likely benign
rs7254566	19:55,447,298	T/C	—	not provided
rs77448328	19:55,447,307	G/A	—	not provided
rs7359934	19:55,447,501	G/A	—	not provided
rs104895561	19:55,447,582	T/C	—	not provided
rs104895552	19:55,447,647	C/T	—	not provided
rs1038422379	19:55,447,679	C/G	—	uncertain significance
rs104895512	19:55,447,681	G/C	—	pathogenic
rs571211521	19:55,447,703	G/A	—	uncertain significance
rs2068925515	19:55,447,725	T/C	—	uncertain significance
rs150220721	19:55,447,728	G/A	—	likely benign
rs104895540	19:55,447,764	T/C	—	not provided
rs200042989	19:55,447,767	C/A	—	uncertain significance
rs104895525	19:55,447,768	G/A	—	pathogenic
rs104895526	19:55,447,773	G/A	—	conflicting classifications of pathogenicity
rs764145628	19:55,447,774	C/T	—	uncertain significance
rs372489727	19:55,447,775	G/A	—	uncertain significance
rs104895550	19:55,447,783	G/C	—	not provided
rs764734665	19:55,447,801	T/C	—	conflicting classifications of pathogenicity

Showing 100 of 268 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.