NEDD4

NEDD4 E3 ubiquitin protein ligase

Summary

This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]

Known Variants109 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs373718024	15:56,122,129	A/G	—	likely benign
rs2542923620	15:56,122,173	A/T	—	likely benign
rs2288344	15:56,122,347	T/G	regulatory region variant	—
rs149901812	15:56,122,778	T/C	—	uncertain significance
rs200856171	15:56,122,787	A/G	—	likely benign
rs768670122	15:56,125,230	T/C	—	uncertain significance
rs201668319	15:56,125,237	C/T	—	likely benign
rs2542937907	15:56,125,290	T/C	—	uncertain significance
rs763410519	15:56,126,280	T/G	—	uncertain significance
rs140800682	15:56,126,311	C/T	—	benign
rs140499972	15:56,126,450	T/C	—	likely benign
rs772614059	15:56,130,030	C/T	—	uncertain significance
rs773133450	15:56,130,322	G/C	—	uncertain significance
rs2542973502	15:56,132,673	G/C	—	uncertain significance
rs2033454093	15:56,132,704	G/A	—	uncertain significance
rs764511146	15:56,132,811	C/G	—	likely benign
rs1054330779	15:56,132,849	C/T	—	uncertain significance
rs768768800	15:56,134,204	G/C	—	uncertain significance
rs934683283	15:56,140,593	C/T	—	uncertain significance
rs200649067	15:56,140,634	G/A	—	likely benign
rs201682687	15:56,140,746	C/T	—	uncertain significance
rs774863320	15:56,141,023	T/C	—	likely benign
rs2543017204	15:56,142,772	A/C	—	uncertain significance
rs144358167	15:56,142,800	G/T	—	likely benign
rs777002049	15:56,142,825	C/A	—	uncertain significance
rs370009623	15:56,142,834	A/G	—	uncertain significance
rs148769096	15:56,142,851	C/T	—	benign
rs2543017826	15:56,142,859	G/T	—	uncertain significance
rs199894826	15:56,142,882	T/A	—	uncertain significance
rs61754989	15:56,144,629	G/A	—	likely benign
rs1392305306	15:56,144,631	G/A	—	likely benign
rs202095078	15:56,144,649	C/T	—	likely benign
rs760545433	15:56,144,683	C/T	—	uncertain significance
rs553753641	15:56,144,731	G/A	—	likely benign
rs779086352	15:56,148,320	A/G	—	likely benign
rs140868475	15:56,148,337	G/A	—	uncertain significance
rs768212499	15:56,148,339	G/A	—	uncertain significance
rs550537760	15:56,152,628	C/T	—	likely benign
rs745912672	15:56,152,704	C/T	—	likely benign
rs1193082101	15:56,152,728	G/C	—	uncertain significance
rs140440361	15:56,152,861	C/T	—	uncertain significance
rs2543060687	15:56,152,887	T/C	—	uncertain significance
rs754787878	15:56,152,908	C/T	—	uncertain significance
rs777969350	15:56,152,909	G/A	—	uncertain significance
rs1416428099	15:56,152,927	G/A	—	uncertain significance
rs572510041	15:56,152,961	A/T	—	uncertain significance
rs199644161	15:56,152,962	T/C	—	uncertain significance
rs16976600	15:56,154,635	C/T	intron variant	—
rs371054999	15:56,155,165	G/A	—	uncertain significance
rs551018387	15:56,155,204	G/A	—	uncertain significance
rs2543071416	15:56,155,210	G/A	—	uncertain significance
rs1054681504	15:56,155,261	A/G	—	uncertain significance
rs200302839	15:56,161,779	C/G	—	benign
rs773536658	15:56,166,192	G/A	—	likely benign
rs192242237	15:56,166,737	C/G	intron variant	—
rs8032158	15:56,194,877	T/C	intron variant	—
rs189982829	15:56,196,165	C/T	intron variant	—
rs75025094	15:56,207,512	A/G	—	benign
rs763303790	15:56,207,541	C/T	—	uncertain significance
rs2036402016	15:56,207,559	C/T	—	uncertain significance
rs148331249	15:56,207,590	T/C	—	benign
rs78775641	15:56,207,655	A/G	—	benign
rs919291836	15:56,207,669	C/T	—	likely benign
rs60811367	15:56,207,678	C/G	—	benign
rs777790906	15:56,207,723	T/C	—	likely benign
rs746236564	15:56,207,733	T/C	—	uncertain significance
rs188669610	15:56,207,771	G/T	—	uncertain significance
rs1338932495	15:56,207,783	A/G	—	likely benign
rs115738078	15:56,207,793	T/C	—	uncertain significance
rs780759541	15:56,207,960	G/A	—	uncertain significance
rs781648726	15:56,208,024	C/T	—	uncertain significance
rs745754852	15:56,208,059	T/C	—	uncertain significance
rs73416291	15:56,208,108	G/A	—	benign
rs74015336	15:56,208,112	A/T	—	benign
rs753469187	15:56,208,122	G/A	—	uncertain significance
rs74666744	15:56,208,178	C/T	—	benign
rs138346814	15:56,208,227	A/G	—	uncertain significance
rs762226166	15:56,208,330	C/G	—	uncertain significance
rs754915551	15:56,208,392	T/C	—	likely benign
rs143372577	15:56,208,476	A/T	—	likely benign
rs566693662	15:56,208,489	A/G	—	uncertain significance
rs367875084	15:56,208,498	C/T	—	uncertain significance
rs777667904	15:56,208,530	C/G	—	uncertain significance
rs12593255	15:56,208,534	C/T	—	benign
rs1293614924	15:56,208,567	A/T	—	uncertain significance
rs2543263862	15:56,208,575	C/A	—	uncertain significance
rs778313132	15:56,208,671	T/G	—	uncertain significance
rs771141153	15:56,208,679	G/C	—	uncertain significance
rs113502754	15:56,208,745	C/T	—	likely benign
rs749707107	15:56,208,750	T/C	—	uncertain significance
rs377041774	15:56,208,761	G/A	—	uncertain significance
rs1595842296	15:56,208,819	T/C	—	uncertain significance
rs111308798	15:56,208,822	C/G	—	likely benign
rs80077833	15:56,208,835	G/T	—	likely benign
rs773946670	15:56,208,851	G/A	—	uncertain significance
rs2543265753	15:56,208,894	C/T	—	uncertain significance
rs148700559	15:56,208,903	T/C	—	likely benign
rs1912403	15:56,208,933	T/C	—	benign
rs115484917	15:56,208,943	G/T	—	benign
rs184103907	15:56,208,949	C/T	—	likely benign

Showing 100 of 109 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.