VIM

vimentin

Summary

This gene encodes a type III intermediate filament protein. Intermediate filaments, along with microtubules and actin microfilaments, make up the cytoskeleton. The encoded protein is responsible for maintaining cell shape and integrity of the cytoplasm, and stabilizing cytoskeletal interactions. This protein is involved in neuritogenesis and cholesterol transport and functions as an organizer of a number of other critical proteins involved in cell attachment, migration, and signaling. Bacterial and viral pathogens have been shown to attach to this protein on the host cell surface. Mutations in this gene are associated with congenital cataracts in human patients. [provided by RefSeq, Aug 2017]

Known Variants91 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14461065610:17,270,991C/T—likely benign
rs375841110:17,271,110G/C—benign
rs5587735610:17,271,206G/C—likely benign
rs20025366910:17,271,395C/T—benign
rs375841010:17,271,400G/C—benign
rs77920452510:17,271,444C/T—uncertain significance
rs77347186510:17,271,467G/A—uncertain significance
rs77102321010:17,271,476G/A—uncertain significance
rs119488776410:17,271,503C/G—uncertain significance
rs184674090810:17,271,510A/G—uncertain significance
rs76264421610:17,271,512G/C—uncertain significance
rs53138532210:17,271,520G/T—benign
rs77809845810:17,271,555G/A—uncertain significance
rs77393898010:17,271,588C/A—uncertain significance
rs249317911010:17,271,630T/C—uncertain significance
rs249317912510:17,271,637C/G—uncertain significance
rs18470110010:17,271,650G/A—uncertain significance
rs249317938410:17,271,697C/G—uncertain significance
rs14453990110:17,271,703C/T—benign
rs77413266310:17,271,707T/C—uncertain significance
rs14785789610:17,271,805T/C—likely benign
rs213167966010:17,271,844A/G—likely benign
rs12191777510:17,271,872G/Amissense variantpathogenic
rs184675279010:17,271,889G/C—uncertain significance
rs76649920510:17,271,939T/C—uncertain significance
rs14994262110:17,271,963A/C—likely benign
rs74532993410:17,271,999A/C—likely benign
rs11651181110:17,272,106C/G—benign
rs11604451010:17,272,510C/T—benign
rs7725909410:17,272,622C/A—likely benign
rs103773453510:17,272,683G/C—uncertain significance
rs108530714110:17,272,708A/Gmissense variantuncertain significance
rs37619727910:17,272,716A/C—likely benign
rs37209247910:17,272,726C/G—likely benign
rs57790325610:17,273,311C/T——
rs4543739310:17,275,450T/C—likely benign
rs249318840210:17,275,587A/G—uncertain significance
rs13823539410:17,275,607G/A—likely benign
rs75223682510:17,275,610C/A—uncertain significance
rs130413530210:17,275,625C/T—uncertain significance
rs709609310:17,275,699C/T—likely benign
rs14515278510:17,275,797A/G—likely benign
rs77376248810:17,275,806A/G—uncertain significance
rs14151998610:17,275,822G/A—likely benign
rs74587439710:17,275,855G/T—benign
rs490310:17,275,861C/T—benign
rs19951502610:17,275,862G/A—uncertain significance
rs249318919210:17,275,908C/T—uncertain significance
rs1125446710:17,275,927C/G—likely benign
rs18872641910:17,275,937A/C—likely benign
rs37027941610:17,275,950G/A—likely benign
rs5746515510:17,276,066C/T—benign
rs7277510110:17,276,405T/C—benign
rs55216523810:17,276,720G/A—uncertain significance
rs14742938710:17,276,796A/G—likely benign
rs249319141510:17,276,799G/C—likely benign
rs36883664410:17,276,835A/G—benign
rs7562019210:17,276,916G/A—benign
rs15082146010:17,277,132A/G—likely benign
rs7971908110:17,277,158C/T—benign
rs37298411310:17,277,160C/A—likely benign
rs77116888210:17,277,183C/G—uncertain significance
rs11637072210:17,277,193G/A—uncertain significance
rs184686575710:17,277,205A/G—uncertain significance
rs20074017210:17,277,210T/G—uncertain significance
rs76727844310:17,277,216G/A—uncertain significance
rs13981878610:17,277,239C/G—uncertain significance
rs75193590910:17,277,249C/T—uncertain significance
rs74933118110:17,277,281G/A—likely benign
rs76183442110:17,277,292G/A—benign
rs74908480110:17,277,300C/T—uncertain significance
rs37405062310:17,277,314C/T—likely benign
rs158873602510:17,277,319T/C—likely pathogenic
rs249319295910:17,277,354A/G—uncertain significance
rs249319299110:17,277,378G/A—uncertain significance
rs156437485810:17,277,381G/A—uncertain significance
rs7412032410:17,277,477C/G—benign
rs7360841910:17,277,503G/A—benign
rs14264302410:17,277,637T/C—likely benign
rs75416715710:17,277,880A/C—uncertain significance
rs16553110:17,278,171C/G—benign
rs249319502010:17,278,362A/G—uncertain significance
rs1714033110:17,279,029G/A—benign
rs53533170510:17,279,211G/T—likely benign
rs76418392510:17,279,212T/G—likely benign
rs121443883610:17,279,229G/A—uncertain significance
rs75353383810:17,279,237C/T—likely benign
rs74770139910:17,279,241A/G—uncertain significance
rs1266710:17,279,325C/T—likely benign
rs324910:17,279,517C/T—benign
rs104934110:17,279,562G/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.