MARCHF7

membrane associated ring-CH-type finger 7

Summary

MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010]

Known Variants47 total

rsidPosition (GRCh37)AllelesClassClinVar
rs575626352:160,576,281G/Aintron variant—
rs1400557252:160,585,617C/A—uncertain significance
rs2005351902:160,585,643A/G—uncertain significance
rs1492351262:160,599,594C/T—uncertain significance
rs1399164862:160,599,647C/T—uncertain significance
rs7613780952:160,599,648G/A—uncertain significance
rs9731394322:160,599,725G/T—uncertain significance
rs7800907992:160,599,733A/C—uncertain significance
rs17043639492:160,599,747G/A—uncertain significance
rs592312212:160,600,414G/Aregulatory region variant—
rs560145082:160,600,750C/Tintron variant—
rs101962202:160,601,931C/G——
rs7784939032:160,602,394A/C—uncertain significance
rs7539341152:160,602,422G/A—uncertain significance
rs5404823092:160,604,376G/A—uncertain significance
rs1417782002:160,604,391A/G—uncertain significance
rs7723558942:160,604,470A/T—uncertain significance
rs767743682:160,604,514C/Tmissense variant—
rs3707275412:160,604,558A/G—uncertain significance
rs7811365692:160,604,596A/C—uncertain significance
rs12484700612:160,604,711T/G—uncertain significance
rs3760075512:160,604,741T/G—uncertain significance
rs7568064192:160,604,769C/T—uncertain significance
rs7463203532:160,604,780C/T—uncertain significance
rs1414469882:160,604,889A/G—uncertain significance
rs7668578562:160,604,907A/C—uncertain significance
rs7553356482:160,604,928A/G—uncertain significance
rs11771599892:160,604,943A/G—uncertain significance
rs14558646852:160,604,951C/T—uncertain significance
rs7695288632:160,604,979G/T—uncertain significance
rs1501448422:160,605,009G/A—uncertain significance
rs7479013422:160,605,069T/C—uncertain significance
rs5515005692:160,605,113A/G—uncertain significance
rs7610950672:160,605,200G/T—uncertain significance
rs5356954382:160,605,201C/T—uncertain significance
rs3725919672:160,605,246C/G—uncertain significance
rs1490651422:160,605,293G/A—uncertain significance
rs24690637392:160,605,314G/C—uncertain significance
rs9287804732:160,605,371G/C—uncertain significance
rs11844051372:160,608,921T/C—uncertain significance
rs746199802:160,611,304A/Gintron variant—
rs14511308572:160,615,799G/A—uncertain significance
rs10086979852:160,615,804T/G—uncertain significance
rs109299512:160,617,226G/T——
rs13859289822:160,619,418C/G—uncertain significance
rs7561846322:160,619,502C/G—uncertain significance
rs1381641802:160,621,167C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.