MYO1E

myosin IE

Summary

This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]

Known Variants420 total

rsidPosition (GRCh37)AllelesClassClinVar
rs421815:59,428,658C/A——
rs14722372715:59,428,863T/C—likely benign
rs804163315:59,429,471G/T—benign
rs6018566615:59,429,538C/T—likely benign
rs375153815:59,429,565G/C—likely benign
rs254197271615:59,429,598T/C—uncertain significance
rs55834975015:59,429,606G/A—uncertain significance
rs77838943715:59,429,625C/A—uncertain significance
rs146338745015:59,429,626G/A—uncertain significance
rs74995873115:59,429,631C/T—uncertain significance
rs14534559715:59,429,637G/A—uncertain significance
rs76839584615:59,429,658G/A—likely benign
rs7550492915:59,429,663G/C—likely benign
rs5637526915:59,429,940G/C—benign
rs7656945515:59,430,158G/A—benign
rs5629448315:59,430,313C/A—benign
rs37532872115:59,430,385C/G—likely benign
rs214029798615:59,430,390C/T—likely benign
rs74800223515:59,430,393T/C—uncertain significance
rs54549250415:59,430,411T/C—likely benign
rs14514017415:59,430,412C/A—uncertain significance
rs18869470415:59,430,423T/C—uncertain significance
rs144340538815:59,430,439G/C—uncertain significance
rs76260940015:59,430,458G/A—likely benign
rs75602844015:59,430,496G/A—uncertain significance
rs14757939115:59,430,501G/T—likely benign
rs159633767115:59,430,503C/T—likely benign
rs207938608615:59,430,505T/G—uncertain significance
rs37258221415:59,430,529C/G—uncertain significance
rs78037319615:59,430,531G/C—uncertain significance
rs74716067515:59,430,535G/T—uncertain significance
rs14198018715:59,430,546C/T—uncertain significance
rs20054433415:59,430,553T/G—uncertain significance
rs75912962915:59,430,563G/T—likely benign
rs20163040915:59,430,572G/A—likely benign
rs1243894915:59,445,673G/A—benign
rs1107140815:59,445,759A/G—benign
rs14672297515:59,445,766T/A—likely benign
rs75516087115:59,445,780G/C—likely benign
rs14301616315:59,445,796C/T—uncertain significance
rs77060428315:59,445,807G/A—uncertain significance
rs14038834615:59,445,809G/A—likely benign
rs15036231215:59,445,813T/C—uncertain significance
rs77518340315:59,445,834G/A—uncertain significance
rs74655674915:59,445,835G/T—uncertain significance
rs56447029115:59,445,849C/T—uncertain significance
rs147840719615:59,445,859T/G—uncertain significance
rs76276294015:59,445,862T/C—uncertain significance
rs20108348515:59,445,874G/A—uncertain significance
rs20220084915:59,445,884C/T—likely benign
rs13803009315:59,445,885G/A—uncertain significance
rs36830396115:59,445,889G/A—likely benign
rs14045637315:59,445,896G/A—benign
rs119994120215:59,445,918T/C—likely benign
rs76270009615:59,445,936G/C—uncertain significance
rs76425763515:59,445,952G/T—uncertain significance
rs254199858415:59,445,954A/G—uncertain significance
rs207949507015:59,445,961G/A—pathogenic
rs254199871015:59,446,002A/G—likely benign
rs11214114515:59,446,178T/C—likely benign
rs20071033615:59,450,467C/T—likely benign
rs75927412415:59,450,468G/A—likely benign
rs37427090815:59,450,473G/A—likely benign
rs142454037615:59,450,476G/T—likely benign
rs75041094515:59,450,512G/A—uncertain significance
rs76352083015:59,450,513G/C—uncertain significance
rs78103352515:59,450,536C/T—uncertain significance
rs14935924015:59,450,552T/C—uncertain significance
rs134545879615:59,450,571G/A—likely benign
rs207952019315:59,450,578C/T—uncertain significance
rs11309606215:59,450,727G/A—likely benign
rs7646851915:59,453,144G/A—benign
rs718240815:59,453,236C/T—benign
rs254200833815:59,453,262G/A—likely benign
rs77990301115:59,453,303G/C—uncertain significance
rs14467278015:59,453,324G/T—likely benign
rs124703744115:59,453,342G/T—uncertain significance
rs19988967415:59,453,355T/G—uncertain significance
rs77595862715:59,453,359G/A—uncertain significance
rs20223788315:59,453,379C/T—conflicting classifications of pathogenicity
rs230679115:59,453,384T/C—benign
rs56939180515:59,453,385G/A—uncertain significance
rs14479485215:59,453,417C/T—likely benign
rs207953664715:59,453,435A/G—likely benign
rs37305369715:59,453,437A/G—likely benign
rs76435104815:59,453,446G/A—likely benign
rs1694108415:59,453,535C/T—likely benign
rs716544415:59,453,578A/G—benign
rs716669015:59,453,681T/C—benign
rs716564715:59,453,684G/C—benign
rs5565414615:59,455,272C/T—benign
rs1223234115:59,455,348G/A—likely benign
rs20095610515:59,455,355C/A—pathogenic
rs14759647115:59,455,356G/C—conflicting classifications of pathogenicity
rs142963593115:59,455,358A/G—conflicting classifications of pathogenicity
rs207954737215:59,455,371A/G—drug response
rs37315034815:59,455,386T/C—uncertain significance
rs130012740515:59,455,388G/C—drug response
rs14967730915:59,455,399C/T—uncertain significance
rs37121500915:59,455,452A/C—uncertain significance

Showing 100 of 420 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.