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

Gene information from NCBI Gene. Variant classifications from ClinVar.