VMP1

vacuole membrane protein 1

Summary

This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed in pancreatitis affected acinar cells where the encoded protein mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]

Known Variants38 total

rsidPosition (GRCh37)AllelesClassClinVar
rs722419517:57,801,488A/Gintron variant
rs7284051117:57,806,011G/Tintron variant
rs20190064717:57,812,787G/Tuncertain significance
rs496839317:57,813,824A/Gintron variant
rs1165407417:57,825,572A/Cintron variant
rs277788517:57,830,473C/T
rs5724061417:57,832,501C/T
rs250936507717:57,842,402A/Guncertain significance
rs20147223217:57,842,446A/Glikely benign
rs1165010617:57,850,251C/Tregulatory region variant
rs5625171317:57,861,501T/G
rs266539117:57,861,503T/G
rs264547417:57,868,601G/Aintron variant
rs3407985417:57,870,246T/A
rs277790017:57,872,494G/C
rs277789517:57,879,610A/Gintron variant
rs1244933117:57,883,646T/A
rs1107938917:57,887,952G/Aregulatory region variant
rs20195878817:57,889,065C/Tuncertain significance
rs217312017:57,892,640A/Tintron variant
rs11586979817:57,892,829T/A
rs425726617:57,894,459A/Gintron variant
rs14334165517:57,895,725C/Gintron variant
rs1107939017:57,895,941C/A
rs233361717:57,896,220T/Aintron variant
rs1293827317:57,901,652G/Aintron variant
rs252635217:57,904,823A/T
rs129206317:57,907,768T/G
rs6208182417:57,907,950A/Gregulatory region variant
rs129592517:57,910,263T/Cregulatory region variant
rs250953384717:57,915,747G/Tuncertain significance
rs146115706917:57,917,145C/Tuncertain significance
rs74933827517:57,917,168G/Auncertain significance
rs86654443517:57,917,192C/Guncertain significance
rs250953718417:57,917,198A/Cuncertain significance
rs18281104417:57,917,621T/Cregulatory region variant
rs129203717:57,918,908T/Cregulatory region variant
rs1313717:57,919,031A/G

Gene information from NCBI Gene. Variant classifications from ClinVar.