REV3L

REV3 like, DNA directed polymerase zeta catalytic subunit

Summary

The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]

Known Variants253 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2409606:111,620,069A/G——
rs4656466:111,620,758G/Adownstream gene variant—
rs5326572906:111,621,270A/C—uncertain significance
rs14647153396:111,621,334A/G—uncertain significance
rs32049546:111,628,597C/G—benign
rs7769063056:111,628,599G/A—uncertain significance
rs32049536:111,628,626C/Tmissense variantbenign
rs1440406406:111,628,694T/C—uncertain significance
rs32186026:111,628,708A/G—benign
rs12989614666:111,628,710A/G—uncertain significance
rs5273337376:111,628,716A/C—likely benign
rs1831178696:111,628,730C/T—benign
rs7620624356:111,628,746T/A—uncertain significance
rs2013535246:111,628,750C/T—likely benign
rs175115256:111,628,771G/T—benign
rs3693186936:111,631,160G/A—likely benign
rs9685216406:111,631,241T/C—uncertain significance
rs1503925156:111,631,254T/C—likely benign
rs3753328846:111,631,293C/T—likely benign
rs32186036:111,631,308C/T—benign
rs3746928886:111,631,309G/A—likely benign
rs175114556:111,634,545T/G—benign
rs13006763176:111,634,583C/G—uncertain significance
rs3699778296:111,634,618G/C—uncertain significance
rs7528578206:111,634,692C/G—conflicting classifications of pathogenicity
rs3729640226:111,636,461T/C—likely benign
rs32185926:111,643,838C/T—benign
rs2409636:111,644,332T/Cintron variant—
rs3703390356:111,650,866T/C—uncertain significance
rs15621305836:111,650,896A/C—uncertain significance
rs2012526156:111,652,912G/C—uncertain significance
rs1378827396:111,652,914T/C—uncertain significance
rs1423896576:111,652,942T/G—likely benign
rs1182026:111,658,371G/Tintron variant—
rs2409556:111,660,643G/Aintron variant—
rs5384447786:111,665,124G/A—benign
rs25345105706:111,665,134A/T—uncertain significance
rs1423229636:111,670,481C/G—uncertain significance
rs7592172246:111,672,899C/T—likely benign
rs3731885576:111,672,922G/A—likely benign
rs7733804336:111,672,999A/T—likely benign
rs1382076636:111,673,000A/G—likely benign
rs2409936:111,673,714T/A——
rs4588066:111,676,028C/G——
rs7683666416:111,678,279G/A—likely benign
rs25346530756:111,678,288A/C—uncertain significance
rs7747526106:111,680,143A/G—likely benign
rs17783735896:111,680,204G/C—uncertain significance
rs7575970406:111,680,226G/A—likely benign
rs1489179656:111,685,047C/T—likely benign
rs7620818856:111,685,079G/C—uncertain significance
rs17789487556:111,685,132T/A—uncertain significance
rs560798336:111,685,180T/C—uncertain significance
rs15826995386:111,686,498A/G—likely benign
rs1890628086:111,688,352A/G—likely benign
rs1435949936:111,688,363G/A—benign
rs7721092586:111,688,364A/G—likely benign
rs7620672906:111,688,390T/C—conflicting classifications of pathogenicity
rs1381422456:111,688,438T/C—uncertain significance
rs14145649266:111,688,475G/C—likely benign
rs7532627956:111,688,538C/A—uncertain significance
rs1416284066:111,688,553T/C—likely benign
rs25347869676:111,688,554G/A—uncertain significance
rs13715309246:111,688,590G/A—uncertain significance
rs7485513196:111,688,621C/T—uncertain significance
rs561082306:111,688,647A/C—conflicting classifications of pathogenicity
rs1393487856:111,688,653T/C—benign
rs32185906:111,688,682G/A—benign
rs1860621886:111,688,746G/A—uncertain significance
rs13402290336:111,688,801C/T—uncertain significance
rs1997781506:111,688,809G/T—likely benign
rs32185876:111,688,927A/G—benign
rs175396926:111,688,947T/A—likely benign
rs15827111936:111,689,000G/A—likely benign
rs3728529226:111,689,007A/G—likely benign
rs25347972086:111,689,019T/C—uncertain significance
rs1820450796:111,689,034A/G—uncertain significance
rs12940923176:111,689,068C/T—uncertain significance
rs32186066:111,689,082C/T—benign
rs5345852976:111,689,083G/A—uncertain significance
rs11675966566:111,689,128C/T—uncertain significance
rs1997238436:111,689,143G/A—uncertain significance
rs7720536096:111,689,213G/A—likely benign
rs3992196:111,693,083G/Cintron variant—
rs25348497266:111,693,859G/C—uncertain significance
rs25348503246:111,693,898C/T—uncertain significance
rs563471616:111,693,952C/A—conflicting classifications of pathogenicity
rs11939522286:111,694,042A/G—uncertain significance
rs25348542036:111,694,084G/A—uncertain significance
rs5422351086:111,694,097T/C—uncertain significance
rs14561564396:111,694,099G/A—uncertain significance
rs32185996:111,694,124C/G—benign
rs3725682916:111,694,147C/A—uncertain significance
rs175396516:111,694,187G/A—benign
rs3710499276:111,694,263C/T—benign
rs1999570396:111,694,340G/A—conflicting classifications of pathogenicity
rs3757984066:111,694,364T/C—uncertain significance
rs1506689356:111,694,395A/G—likely benign
rs1174624336:111,694,398A/G—likely benign
rs12155253616:111,694,519T/A—uncertain significance

Showing 100 of 253 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.