MVP

major vault protein

Summary

This gene encodes the major component of the vault complex. Vaults are multi-subunit ribonucleoprotein structures that may be involved in nucleo-cytoplasmic transport. The encoded protein may play a role in multiple cellular processes by regulating the MAP kinase, JAK/STAT and phosphoinositide 3-kinase/Akt signaling pathways. The encoded protein also plays a role in multidrug resistance, and expression of this gene may be a prognostic marker for several types of cancer. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]

Known Variants70 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1214974616:29,832,873A/C
rs18591055116:29,834,697A/Gdownstream gene variant
rs993863016:29,837,108C/Tregulatory region variant
rs478818616:29,841,225A/Gregulatory region variant
rs14299738916:29,841,950G/Abenign
rs77506356316:29,841,980G/Auncertain significance
rs37418234016:29,842,218C/Tuncertain significance
rs14819076716:29,842,230G/Alikely benign
rs14620664016:29,842,240G/Auncertain significance
rs20179771416:29,842,273G/Auncertain significance
rs14297421316:29,842,318G/Auncertain significance
rs76381450516:29,842,378G/Auncertain significance
rs76744517816:29,845,087A/Tuncertain significance
rs254336822916:29,845,145T/Auncertain significance
rs77783058216:29,845,167C/Tlikely benign
rs90223888716:29,845,264A/Cuncertain significance
rs14470192516:29,845,271G/Alikely benign
rs37020197616:29,845,334G/Tuncertain significance
rs14769696516:29,845,355G/Tuncertain significance
rs254336903416:29,845,381G/Auncertain significance
rs139228389316:29,847,046C/Guncertain significance
rs74877862316:29,847,093G/Auncertain significance
rs77982314716:29,848,065G/Cuncertain significance
rs77358743916:29,848,076C/Tuncertain significance
rs254337381416:29,848,118C/Guncertain significance
rs77965668716:29,848,145C/Tuncertain significance
rs7138943016:29,848,154G/Cconflicting classifications of pathogenicity
rs13794778816:29,848,162C/Tlikely benign
rs206749225716:29,848,222T/Guncertain significance
rs75828843516:29,848,226G/Auncertain significance
rs36845120416:29,848,239C/Tuncertain significance
rs206749259116:29,848,242A/Cuncertain significance
rs132684288116:29,848,249G/Cuncertain significance
rs139106708816:29,851,517C/Tuncertain significance
rs11201441016:29,851,558G/Abenign
rs123932139716:29,851,619G/Cuncertain significance
rs15089998816:29,851,667C/Tuncertain significance
rs75867623116:29,852,920C/Tuncertain significance
rs77964785216:29,852,921G/Auncertain significance
rs254338115816:29,852,933G/Cuncertain significance
rs14723292516:29,852,968T/Auncertain significance
rs254338139816:29,853,065A/Guncertain significance
rs54129642816:29,853,074C/Tuncertain significance
rs77315091216:29,853,097G/Auncertain significance
rs37161838616:29,853,298T/Cuncertain significance
rs74993042216:29,853,303G/Auncertain significance
rs75461619916:29,853,319G/Auncertain significance
rs75778172616:29,853,331G/Auncertain significance
rs95835017116:29,855,816A/Tuncertain significance
rs20074800016:29,855,890G/Auncertain significance
rs14607884816:29,855,968C/Tuncertain significance
rs254338525416:29,856,002C/Auncertain significance
rs37104245416:29,856,005C/Tlikely benign
rs14405521116:29,856,036G/Alikely benign
rs14725619016:29,856,046C/Tuncertain significance
rs101254719616:29,856,067C/Auncertain significance
rs3591617216:29,856,082G/Abenign
rs95497054616:29,856,146G/Auncertain significance
rs143495536416:29,856,170T/Cuncertain significance
rs206757051816:29,856,194C/Tuncertain significance
rs13928930516:29,857,215C/Tuncertain significance
rs20152249016:29,857,231G/Auncertain significance
rs37161361516:29,857,479C/Tlikely benign
rs56211479016:29,857,526G/Auncertain significance
rs53995609516:29,859,163C/Tlikely benign
rs254338827216:29,859,164T/Clikely benign
rs76697221516:29,859,188G/Cuncertain significance
rs14300841816:29,859,219G/Auncertain significance
rs14200168116:29,859,282A/Gbenign
rs3443703016:29,859,305C/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.