F2

coagulation factor II, thrombin

Pharmacogene

Summary

This gene encodes the prothrombin protein (also known as coagulation factor II). This protein is proteolytically cleaved in multiple steps to form the activated serine protease thrombin. The activated thrombin enzyme plays an important role in thrombosis and hemostasis by converting fibrinogen to fibrin during blood clot formation, by stimulating platelet aggregation, and by activating additional coagulation factors. Thrombin also plays a role in cell proliferation, tissue repair, and angiogenesis as well as maintaining vascular integrity during development and postnatal life. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in this gene lead to various forms of thrombosis and dysprothrombinemia. Rapid increases in cytokine levels following coronavirus infections can dysregulate the coagulation cascade and produce thrombosis, compromised blood supply, and organ failure. [provided by RefSeq, May 2020]

Known Variants315 total

rsidPosition (GRCh37)AllelesClassClinVar
rs74836875111:46,740,791G/A—likely benign
rs77502121411:46,740,798C/T—pathogenic
rs138969844411:46,740,804T/C—likely benign
rs88604833311:46,740,830G/A—conflicting classifications of pathogenicity
rs120741065411:46,740,854C/T—likely benign
rs313643111:46,740,871G/A—likely benign
rs37256064811:46,740,874T/C—likely benign
rs77981422611:46,740,879G/A—likely benign
rs76984595811:46,740,881A/G—likely benign
rs57044216711:46,741,234C/A—likely benign
rs37684526711:46,741,238C/T—likely benign
rs76903104311:46,741,239C/G—likely benign
rs94444142211:46,741,240A/G—likely benign
rs75978813411:46,741,242C/T—likely benign
rs93949296111:46,741,243G/A—likely benign
rs123495161011:46,741,270A/C—uncertain significance
rs14478553611:46,741,275C/T—uncertain significance
rs128899951911:46,741,277G/A—likely benign
rs14859679011:46,741,280G/A—likely benign
rs101322246011:46,741,290C/T—conflicting classifications of pathogenicity
rs250281591911:46,741,296C/T—conflicting classifications of pathogenicity
rs94636074411:46,741,307C/T—likely benign
rs102151349211:46,741,325G/A—likely benign
rs75748622211:46,741,339T/C—uncertain significance
rs90507436311:46,741,346A/G—likely benign
rs37435344711:46,741,352C/T—likely benign
rs14200181211:46,741,363C/T—uncertain significance
rs14725303011:46,741,364G/C—likely benign
rs77699802511:46,741,373C/T—likely benign
rs206482419911:46,741,379G/A—likely benign
rs250281617711:46,741,382C/T—likely benign
rs37168005611:46,741,385C/T—likely benign
rs115899008811:46,741,388G/A—likely benign
rs77287861511:46,741,400C/G—likely benign
rs20093449411:46,741,405C/T—uncertain significance
rs15112128211:46,741,406G/A—conflicting classifications of pathogenicity
rs250281628811:46,741,419C/T—likely benign
rs75662871311:46,741,429C/T—likely benign
rs76402937911:46,741,430G/A—likely benign
rs207085011:46,741,495C/T—benign
rs313643311:46,741,908C/A—benign
rs11261994411:46,741,981G/Aintron variant—
rs14706297111:46,742,047C/G—uncertain significance
rs206482956011:46,742,055C/T—likely benign
rs75863862111:46,742,056C/T—likely benign
rs122714747511:46,742,092A/G—likely pathogenic
rs20134711011:46,742,093C/T—likely benign
rs250281824311:46,742,105C/T—likely benign
rs20077767011:46,742,106C/T—likely benign
rs37054728511:46,742,107G/A—likely benign
rs313643411:46,742,249T/C—benign
rs77828066011:46,742,353G/A—likely benign
rs18943666811:46,742,358C/T—uncertain significance
rs14789249711:46,742,359G/A—conflicting classifications of pathogenicity
rs250281907211:46,742,398A/C—likely benign
rs74652403411:46,742,405C/T—likely benign
rs77592720711:46,742,406G/A—conflicting classifications of pathogenicity
rs76189317511:46,742,408G/A—likely benign
rs313643511:46,742,426G/A—benign
rs313643611:46,742,489A/G—benign
rs313644111:46,743,247T/A——
rs313644711:46,744,368T/A——
rs313644811:46,744,369G/Aintron variant—
rs313644911:46,744,470G/A—benign
rs207085111:46,744,528C/T—benign
rs90091707211:46,744,711C/T—likely benign
rs75860216311:46,744,712G/A—likely benign
rs54680804411:46,744,715G/A—likely benign
rs159241005911:46,744,716T/C—likely benign
rs146092115011:46,744,718G/C—likely benign
rs77282828411:46,744,725C/T—likely benign
rs37571371511:46,744,726G/A—conflicting classifications of pathogenicity
rs77222985511:46,744,734C/T—likely benign
rs250282345411:46,744,740T/C—likely benign
rs76415374311:46,744,755G/A—likely benign
rs250282350911:46,744,761C/T—likely benign
rs120216769111:46,744,762C/T—pathogenic
rs53244502711:46,744,763G/A—uncertain significance
rs75885774611:46,744,782C/T—likely benign
rs76690004311:46,744,783C/T—uncertain significance
rs13914836511:46,744,784G/A—uncertain significance
rs135101343711:46,744,806A/G—likely benign
rs11316441711:46,744,836G/A—likely pathogenic
rs77067828911:46,744,849C/T—likely benign
rs206485062711:46,744,913G/T—likely benign
rs76720547311:46,744,919T/A—likely benign
rs75211143611:46,744,921T/G—likely benign
rs207085211:46,744,925G/T—likely benign
rs250282410011:46,744,928C/G—likely benign
rs77718486311:46,744,941C/A—likely benign
rs129142483711:46,744,948C/G—uncertain significance
rs250282419711:46,744,958C/T—uncertain significance
rs37192357511:46,744,959C/T—likely benign
rs38790652211:46,744,971——pathogenic
rs313645211:46,744,989C/T—likely benign
rs589611:46,745,003C/Tmissense variantlikely benign
rs14485754711:46,745,004G/A—conflicting classifications of pathogenicity
rs250282437911:46,745,009C/T—uncertain significance
rs36946888211:46,745,010C/T—likely benign
rs148955613111:46,745,025A/C—likely benign

Showing 100 of 315 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.