TERF2

telomeric repeat binding factor 2

Summary

This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]

Known Variants43 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5610654316:69,390,581T/C—benign
rs1270889816:69,390,642G/A—benign
rs992272716:69,390,659C/T—benign
rs14119082116:69,390,917G/C—uncertain significance
rs992553816:69,391,659C/A—benign
rs992561916:69,391,714C/G—benign
rs3429511616:69,395,212G/A—benign
rs78120137716:69,395,358C/T—uncertain significance
rs254338973616:69,395,392T/C—likely benign
rs25179616:69,395,434G/A—benign
rs14158233016:69,400,728G/C—uncertain significance
rs37282867016:69,400,747C/T—uncertain significance
rs74902948016:69,400,780C/T—uncertain significance
rs75471334816:69,400,791T/C—uncertain significance
rs1333725816:69,400,795G/C—benign
rs254339495516:69,400,798C/G—uncertain significance
rs76640159716:69,400,881G/A—uncertain significance
rs37171751716:69,400,901C/T—likely benign
rs20161370816:69,400,923T/C—uncertain significance
rs54709975616:69,400,951C/T—uncertain significance
rs254339534016:69,400,968G/A—likely benign
rs74965522616:69,401,055G/A—uncertain significance
rs3401482916:69,401,085G/T—benign
rs3543939716:69,402,252C/T—benign
rs37224373216:69,402,288T/C—uncertain significance
rs3391693416:69,402,305C/T—benign
rs254339705616:69,402,346T/G—uncertain significance
rs52830182216:69,403,012A/T——
rs1232506016:69,404,241G/A—benign
rs129821734216:69,406,232T/G—uncertain significance
rs378507416:69,406,986A/Gintron variant—
rs8032568416:69,418,242A/G—benign
rs99629121616:69,418,585G/A—likely benign
rs57305922616:69,418,607G/C—uncertain significance
rs3441521416:69,419,394G/A—benign
rs74965360816:69,419,528C/T—uncertain significance
rs103081801716:69,419,599C/T—likely benign
rs14650658916:69,419,612G/A—uncertain significance
rs201417682416:69,419,635C/G—likely benign
rs102485840416:69,419,663C/T—uncertain significance
rs201417964316:69,419,671G/A—likely benign
rs147179186516:69,419,672G/A—uncertain significance
rs201418076216:69,419,696C/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.