PIDD1

p53-induced death domain protein 1

Summary

The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

Known Variants132 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2495155449	11:799,318	C/T	—	uncertain significance
rs144262676	11:799,340	C/T	—	likely benign
rs769822502	11:799,356	G/C	—	uncertain significance
rs11820580	11:799,358	G/C	—	benign
rs147404421	11:799,383	C/T	—	uncertain significance
rs373561275	11:799,386	C/T	—	likely benign
rs747708033	11:799,414	C/T	—	uncertain significance
rs139695620	11:799,432	G/A	—	uncertain significance
rs1224174574	11:799,453	G/A	—	pathogenic
rs747620551	11:799,456	G/A	—	pathogenic
rs376413487	11:799,516	G/A	—	uncertain significance
rs59801538	11:799,575	G/A	—	likely benign
rs150597726	11:799,584	C/T	—	likely benign
rs139616380	11:799,797	G/C	—	likely benign
rs1385272293	11:799,816	G/A	—	uncertain significance
rs763970972	11:799,822	C/T	—	uncertain significance
rs761320735	11:799,828	G/A	—	uncertain significance
rs755700751	11:799,842	T/C	—	uncertain significance
rs753073557	11:799,845	C/T	—	uncertain significance
rs758859772	11:799,846	G/A	—	pathogenic
rs774270265	11:799,890	C/G	—	uncertain significance
rs749370608	11:799,926	G/A	—	uncertain significance
rs577701934	11:799,989	C/T	—	uncertain significance
rs201571144	11:800,000	G/A	—	likely benign
rs2133753509	11:800,015	C/T	—	pathogenic
rs754359487	11:800,132	G/A	—	uncertain significance
rs1277565480	11:800,155	C/T	—	uncertain significance
rs374765193	11:800,166	C/T	—	uncertain significance
rs1865144689	11:800,177	T/C	—	uncertain significance
rs368621396	11:800,179	C/A	—	uncertain significance
rs1165091629	11:800,192	G/C	—	uncertain significance
rs374329306	11:800,205	C/T	—	uncertain significance
rs140671377	11:800,213	C/T	—	likely benign
rs533530054	11:800,214	G/A	—	uncertain significance
rs765699624	11:800,218	A/G	—	likely benign
rs145874216	11:800,220	G/A	—	uncertain significance
rs199606940	11:800,231	C/T	—	uncertain significance
rs150191339	11:800,232	G/A	—	uncertain significance
rs534655933	11:800,340	C/T	—	uncertain significance
rs767807556	11:800,378	G/A	—	likely benign
rs766071912	11:800,392	C/T	—	uncertain significance
rs147405558	11:800,432	C/T	—	benign
rs1865174831	11:800,436	A/G	—	uncertain significance
rs200290640	11:800,449	G/A	—	conflicting classifications of pathogenicity
rs199752248	11:800,453	T/C	—	conflicting classifications of pathogenicity
rs200880915	11:800,459	A/G	—	likely benign
rs7117921	11:800,486	C/T	upstream gene variant	—
rs774349985	11:800,552	C/T	—	uncertain significance
rs7111855	11:800,556	G/A	—	benign
rs147208238	11:800,562	G/A	—	likely benign
rs113725585	11:800,563	C/T	—	likely benign
rs1427628817	11:800,567	C/G	—	uncertain significance
rs117481321	11:800,574	C/T	—	likely benign
rs953381104	11:800,594	C/T	—	uncertain significance
rs750790652	11:800,629	C/T	—	uncertain significance
rs147896191	11:800,630	A/G	—	benign
rs1590137651	11:800,659	G/A	—	uncertain significance
rs578222814	11:800,770	G/A	—	pathogenic
rs781023813	11:800,865	C/T	—	uncertain significance
rs747393319	11:800,905	G/A	—	uncertain significance
rs148295308	11:801,085	A/G	—	uncertain significance
rs770387745	11:801,099	C/T	—	uncertain significance
rs147049845	11:801,100	G/A	—	uncertain significance
rs138401853	11:801,105	C/A	—	likely benign
rs143934950	11:801,106	G/A	—	uncertain significance
rs766820613	11:801,248	C/T	—	uncertain significance
rs115365647	11:801,258	T/C	—	benign
rs115111427	11:801,268	C/A	—	likely benign
rs2495296485	11:801,271	G/T	—	uncertain significance
rs201367408	11:801,278	C/T	—	uncertain significance
rs777875792	11:801,358	C/A	—	uncertain significance
rs370400383	11:801,461	C/T	—	uncertain significance
rs199821306	11:801,482	G/A	—	uncertain significance
rs201920329	11:801,483	G/C	—	conflicting classifications of pathogenicity
rs369066278	11:801,501	C/A	—	uncertain significance
rs143991805	11:801,515	G/A	—	uncertain significance
rs1274527338	11:801,558	T/C	—	likely benign
rs567985719	11:801,584	A/C	—	uncertain significance
rs113521642	11:801,644	A/T	—	benign
rs2495331402	11:801,990	G/A	—	uncertain significance
rs1210854098	11:802,047	C/G	—	uncertain significance
rs768696567	11:802,048	G/A	—	uncertain significance
rs774649862	11:802,050	C/T	—	uncertain significance
rs372742755	11:802,198	C/T	—	uncertain significance
rs61748609	11:802,270	G/A	—	benign
rs370451276	11:802,295	C/T	—	uncertain significance
rs374760019	11:802,302	G/A	—	likely benign
rs371181384	11:802,331	G/A	—	uncertain significance
rs375189720	11:802,346	C/T	—	uncertain significance
rs373164089	11:802,698	G/A	—	likely benign
rs751029436	11:802,746	G/A	—	likely benign
rs756216117	11:802,748	C/A	—	uncertain significance
rs1464115338	11:802,850	G/A	—	uncertain significance
rs1194551878	11:802,857	G/C	—	uncertain significance
rs563929707	11:802,868	G/T	—	likely benign
rs2495381287	11:802,879	G/A	—	uncertain significance
rs1274122362	11:802,891	G/A	—	uncertain significance
rs746811540	11:802,895	C/T	—	likely benign
rs28360884	11:802,902	T/G	—	benign
rs373535114	11:803,206	G/A	—	uncertain significance

Showing 100 of 132 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.