PROZ

protein Z, vitamin K dependent plasma glycoprotein

Summary

This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

Known Variants57 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14852706313:113,813,005C/G—uncertain significance
rs302471313:113,813,321G/C——
rs302471813:113,813,853A/Gintron variant—
rs75719490113:113,814,354G/A—uncertain significance
rs122487829613:113,814,375C/T—uncertain significance
rs20002172413:113,814,376G/A—uncertain significance
rs76897245413:113,814,378G/A—uncertain significance
rs119980330813:113,814,407C/G—uncertain significance
rs75363947413:113,814,432T/A—uncertain significance
rs14686476813:113,814,442T/A—uncertain significance
rs140063340313:113,814,451A/C—uncertain significance
rs302477813:113,814,465G/Cmissense variantaffects
rs302472313:113,815,282T/C—benign
rs121284907613:113,817,323G/A—uncertain significance
rs19975596113:113,817,325G/A—uncertain significance
rs37208680513:113,817,331C/G—likely benign
rs14552349713:113,817,332C/G—uncertain significance
rs75937567313:113,817,373G/A—uncertain significance
rs100434627013:113,817,403T/C—uncertain significance
rs203679422713:113,817,430G/C—uncertain significance
rs302473113:113,818,708A/Tdownstream gene variant—
rs77668223013:113,818,736G/C——
rs203686257913:113,818,841C/T—uncertain significance
rs76334089913:113,818,851G/A—uncertain significance
rs76878499713:113,818,899C/T—uncertain significance
rs97283797013:113,818,924G/C—uncertain significance
rs75002582613:113,818,957C/A—uncertain significance
rs20187472313:113,819,398G/C—uncertain significance
rs77752986013:113,819,403G/A—uncertain significance
rs75735320513:113,819,410G/A—likely benign
rs56336889113:113,819,427C/T—uncertain significance
rs14302457013:113,824,745G/A—uncertain significance
rs93540870213:113,824,748G/A—uncertain significance
rs37365120313:113,824,778C/T—uncertain significance
rs20055491613:113,824,800C/T—uncertain significance
rs54757525413:113,825,917G/A—uncertain significance
rs78094975113:113,825,920C/T—uncertain significance
rs14013241613:113,825,955G/A—uncertain significance
rs37578886613:113,825,968T/C—uncertain significance
rs14376034213:113,825,970C/T—likely benign
rs37141002213:113,825,980C/T—uncertain significance
rs18946461713:113,825,985G/A—likely benign
rs14639869213:113,825,992A/T—likely benign
rs76566523113:113,826,043C/T—uncertain significance
rs19964564013:113,826,078G/A—uncertain significance
rs11441205213:113,826,087C/T—benign
rs302477213:113,826,100G/Amissense variantlikely benign
rs302477313:113,826,119C/T—benign
rs37082605013:113,826,120G/A—uncertain significance
rs302477413:113,826,164G/A—benign
rs203712239313:113,826,199G/C—uncertain significance
rs145232019713:113,826,246A/G—likely benign
rs75024953013:113,826,252G/A—uncertain significance
rs78129779313:113,826,275T/A—likely benign
rs77975210413:113,826,277G/C—uncertain significance
rs74836322913:113,826,279A/G—uncertain significance
rs75758914313:113,826,373C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.