RAD1

RAD1 checkpoint DNA exonuclease

Summary

This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]

Known Variants28 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18053275:34,908,877T/C—benign
rs7673397335:34,908,920C/G—uncertain significance
rs15805055345:34,908,929T/C—uncertain significance
rs3728967625:34,908,936A/G—likely benign
rs15611680245:34,908,989G/A—uncertain significance
rs23089535:34,909,062G/C—benign
rs775013595:34,909,420T/C—likely benign
rs1502105045:34,909,421A/C—uncertain significance
rs3701729155:34,911,674T/A—uncertain significance
rs3738458025:34,911,704C/T—uncertain significance
rs1472960595:34,911,706C/T—likely benign
rs7798956555:34,911,707G/C—uncertain significance
rs7641563465:34,911,734C/T—uncertain significance
rs7478693925:34,911,738G/C—uncertain significance
rs7625204715:34,911,758A/G—uncertain significance
rs21119427395:34,911,803T/C—uncertain significance
rs7515521455:34,911,822T/G—uncertain significance
rs7558960665:34,911,851T/C—uncertain significance
rs23089575:34,911,884C/T—benign
rs1130226775:34,911,899C/T—uncertain significance
rs23089565:34,911,900G/A—uncertain significance
rs18053285:34,911,914G/C—benign
rs1416397265:34,913,603T/C—likely benign
rs9198853945:34,913,609G/C—uncertain significance
rs7784088285:34,913,638A/G—uncertain significance
rs2007986855:34,913,687T/C—likely benign
rs5305579615:34,914,849T/C—uncertain significance
rs12953365575:34,914,991G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.