RNF125

ring finger protein 125

Summary

This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]

Known Variants66 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1361234287	18:29,598,836	G/C	—	uncertain significance
rs760864567	18:29,598,837	T/G	—	uncertain significance
rs34097443	18:29,598,847	T/C	—	benign
rs759640087	18:29,598,850	C/G	—	conflicting classifications of pathogenicity
rs757185603	18:29,598,866	C/T	—	uncertain significance
rs780911222	18:29,598,868	C/G	—	likely benign
rs766520562	18:29,598,873	C/G	—	uncertain significance
rs1276928422	18:29,598,896	C/T	—	uncertain significance
rs776932441	18:29,598,907	C/A	—	uncertain significance
rs759692910	18:29,598,908	C/T	—	likely benign
rs201846866	18:29,598,916	G/A	—	benign
rs751589349	18:29,598,918	C/T	—	conflicting classifications of pathogenicity
rs754674162	18:29,598,937	C/T	—	likely benign
rs979916916	18:29,598,948	T/C	—	conflicting classifications of pathogenicity
rs758868773	18:29,598,953	G/A	—	uncertain significance
rs150801287	18:29,598,958	A/G	—	likely benign
rs760465153	18:29,598,995	G/A	—	uncertain significance
rs577408811	18:29,604,903	G/A	—	—
rs1161192022	18:29,617,089	T/C	—	uncertain significance
rs757825021	18:29,617,090	C/T	—	likely benign
rs2144463305	18:29,617,095	A/T	—	uncertain significance
rs200392437	18:29,617,112	G/T	—	uncertain significance
rs202134819	18:29,617,114	A/T	—	uncertain significance
rs2510916361	18:29,617,121	G/A	—	likely benign
rs780329924	18:29,617,141	G/A	—	uncertain significance
rs140181211	18:29,617,167	C/T	—	likely benign
rs1189142890	18:29,617,178	T/C	—	likely benign
rs367997412	18:29,617,214	C/T	—	benign
rs750934999	18:29,617,215	G/A	—	uncertain significance
rs9947278	18:29,617,255	T/G	—	benign
rs147178607	18:29,622,147	C/T	—	benign
rs786201014	18:29,622,159	G/A	missense variant	pathogenic
rs146291499	18:29,622,191	T/C	—	uncertain significance
rs1598815885	18:29,622,202	G/A	—	uncertain significance
rs757375525	18:29,622,205	C/A	—	uncertain significance
rs144268137	18:29,622,210	A/G	—	likely benign
rs2510919548	18:29,622,223	G/A	—	uncertain significance
rs2510919564	18:29,622,233	C/T	—	uncertain significance
rs1311282823	18:29,625,597	A/G	—	likely benign
rs145377749	18:29,625,636	T/G	—	benign
rs2039263017	18:29,625,645	A/G	—	uncertain significance
rs2039263250	18:29,625,663	A/G	—	uncertain significance
rs373764886	18:29,625,679	C/T	missense variant	uncertain significance
rs79205763	18:29,625,680	G/A	—	likely benign
rs142382122	18:29,625,684	C/T	—	likely benign
rs61749945	18:29,625,685	A/G	—	benign
rs2039264230	18:29,625,713	A/G	—	likely benign
rs767749159	18:29,645,878	G/A	—	uncertain significance
rs370242930	18:29,645,880	C/T	missense variant	pathogenic
rs141822083	18:29,645,881	G/A	—	uncertain significance
rs2510930847	18:29,645,884	T/C	—	uncertain significance
rs201378700	18:29,645,892	G/A	—	conflicting classifications of pathogenicity
rs150663325	18:29,645,930	A/T	—	benign
rs2510930902	18:29,645,933	T/A	—	uncertain significance
rs769263274	18:29,645,954	G/T	—	uncertain significance
rs2510930972	18:29,645,973	G/A	—	uncertain significance
rs147556999	18:29,648,307	G/A	—	uncertain significance
rs773443582	18:29,648,309	T/A	—	uncertain significance
rs377245557	18:29,648,318	G/C	—	uncertain significance
rs776728236	18:29,648,327	A/T	—	uncertain significance
rs2510932164	18:29,648,331	A/G	—	uncertain significance
rs374540528	18:29,648,335	G/A	—	likely benign
rs141596575	18:29,648,338	C/T	—	benign
rs61392417	18:29,655,472	C/A	—	—
rs62093946	18:29,655,791	T/C	downstream gene variant	—
rs545794712	18:29,659,178	A/G	—	—

Gene information from NCBI Gene. Variant classifications from ClinVar.