MADD

MAP kinase activating death domain

Summary

Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Known Variants218 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs61731956	11:47,290,147	G/A	missense variant	pathogenic
rs16938582	11:47,290,376	A/G	regulatory region variant	—
rs1449626	11:47,290,759	A/C	regulatory region variant	—
rs1449627	11:47,290,984	T/C	—	—
rs45489595	11:47,291,635	C/T	regulatory region variant	—
rs10501320	11:47,293,799	G/C	regulatory region variant	—
rs773860940	11:47,295,511	G/T	—	uncertain significance
rs2541472333	11:47,296,112	A/G	—	likely pathogenic
rs746888060	11:47,296,132	C/A	—	uncertain significance
rs771163857	11:47,296,145	C/A	—	uncertain significance
rs748229155	11:47,296,158	G/A	—	uncertain significance
rs116121413	11:47,296,182	C/A	—	benign
rs769959099	11:47,296,195	G/A	—	likely benign
rs775508331	11:47,296,250	C/T	—	uncertain significance
rs751095115	11:47,296,284	T/C	—	uncertain significance
rs1200178932	11:47,296,319	C/T	—	likely pathogenic
rs548625118	11:47,296,346	C/T	—	uncertain significance
rs766120355	11:47,296,361	C/T	—	likely pathogenic
rs763479544	11:47,296,433	T/C	—	uncertain significance
rs138027707	11:47,296,468	C/G	—	likely benign
rs757187543	11:47,296,500	C/T	—	uncertain significance
rs187671926	11:47,296,520	C/T	—	uncertain significance
rs1164995510	11:47,296,524	G/A	—	uncertain significance
rs61733162	11:47,296,533	G/A	—	benign
rs138776960	11:47,296,545	C/G	—	conflicting classifications of pathogenicity
rs752184946	11:47,296,559	C/T	—	uncertain significance
rs752898668	11:47,296,560	G/A	—	uncertain significance
rs768316614	11:47,296,619	C/T	—	likely pathogenic
rs751333748	11:47,296,643	C/T	—	uncertain significance
rs149316791	11:47,296,644	G/A	—	uncertain significance
rs769284685	11:47,296,691	A/G	—	uncertain significance
rs60183400	11:47,296,701	G/A	—	benign
rs1185821541	11:47,297,461	G/T	—	uncertain significance
rs1357864232	11:47,297,463	C/T	—	uncertain significance
rs1411949325	11:47,297,500	C/G	—	pathogenic
rs2049504624	11:47,297,560	C/T	—	pathogenic
rs74698331	11:47,297,564	A/G	—	conflicting classifications of pathogenicity
rs766388333	11:47,297,570	C/T	—	likely benign
rs1326027590	11:47,297,704	G/T	—	pathogenic
rs1039339237	11:47,297,712	G/A	—	uncertain significance
rs764304296	11:47,297,736	A/G	—	uncertain significance
rs1451992658	11:47,297,739	C/G	—	uncertain significance
rs2049640804	11:47,297,754	G/A	—	pathogenic
rs147651255	11:47,298,294	G/A	—	likely benign
rs147179561	11:47,298,298	C/T	—	pathogenic
rs1402413143	11:47,298,313	C/T	—	uncertain significance
rs2050344818	11:47,298,335	T/C	—	uncertain significance
rs1591767154	11:47,298,356	T/C	—	conflicting classifications of pathogenicity
rs326214	11:47,298,360	G/A	synonymous variant	benign
rs370382902	11:47,298,380	C/T	—	pathogenic
rs544213854	11:47,298,381	G/A	—	likely benign
rs34602269	11:47,298,402	G/A	—	benign
rs1489685288	11:47,299,733	C/T	—	likely benign
rs147713337	11:47,299,735	C/T	—	uncertain significance
rs981478499	11:47,299,825	A/G	—	uncertain significance
rs2542186878	11:47,300,550	G/T	—	uncertain significance
rs1162163023	11:47,300,562	A/C	—	uncertain significance
rs770403872	11:47,300,563	C/T	—	uncertain significance
rs112202533	11:47,300,597	A/G	—	likely benign
rs79232885	11:47,300,633	A/G	—	benign
rs756420276	11:47,303,124	A/G	—	likely pathogenic
rs61751747	11:47,303,165	A/G	—	likely benign
rs2056821580	11:47,303,172	A/G	—	uncertain significance
rs769757772	11:47,303,182	T/G	—	uncertain significance
rs901572589	11:47,303,237	A/G	—	uncertain significance
rs532391313	11:47,303,241	C/T	—	uncertain significance
rs326217	11:47,303,275	T/C	synonymous variant	benign
rs1288728896	11:47,303,276	G/A	—	uncertain significance
rs2056880551	11:47,303,283	A/G	—	uncertain significance
rs187104764	11:47,303,318	G/A	—	uncertain significance
rs758381225	11:47,304,039	G/C	—	uncertain significance
rs367752738	11:47,304,077	G/A	—	uncertain significance
rs141289296	11:47,304,080	G/A	—	uncertain significance
rs2137234315	11:47,304,117	G/T	—	uncertain significance
rs200413863	11:47,304,182	C/T	—	likely benign
rs561693975	11:47,304,423	C/A	—	uncertain significance
rs1328559052	11:47,304,426	A/G	—	uncertain significance
rs527582220	11:47,304,436	G/A	—	uncertain significance
rs138087178	11:47,304,450	A/G	—	likely benign
rs755520023	11:47,304,451	A/G	—	uncertain significance
rs35135181	11:47,304,464	T/A	—	benign
rs989772549	11:47,304,469	C/G	—	uncertain significance
rs374003373	11:47,304,489	C/T	—	uncertain significance
rs758614665	11:47,304,511	C/G	—	uncertain significance
rs1042577575	11:47,304,512	T/G	—	likely benign
rs12573962	11:47,305,660	G/C	intron variant	—
rs540783175	11:47,305,809	G/T	—	uncertain significance
rs769664261	11:47,305,832	A/T	—	uncertain significance
rs2543164636	11:47,305,926	A/G	—	likely pathogenic
rs772422485	11:47,305,947	C/T	—	uncertain significance
rs148758859	11:47,305,977	T/C	—	uncertain significance
rs142457717	11:47,305,982	G/A	—	uncertain significance
rs765727095	11:47,306,044	C/G	—	uncertain significance
rs151338032	11:47,306,049	C/T	—	uncertain significance
rs751993844	11:47,306,055	G/A	—	uncertain significance
rs139405264	11:47,306,063	T/A	—	uncertain significance
rs1396577666	11:47,306,065	T/G	—	likely benign
rs1332677653	11:47,306,082	G/A	—	uncertain significance
rs1013008661	11:47,306,115	C/G	—	uncertain significance
rs141307265	11:47,306,534	G/A	—	uncertain significance

Showing 100 of 218 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.