ANKLE1

ankyrin repeat and LEM domain containing 1

Summary

Enables endonuclease activity. Involved in DNA damage response and protein export from nucleus. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants77 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1041939719:17,391,328G/T
rs3558676619:17,392,629G/T
rs77903943719:17,392,737C/Tuncertain significance
rs90370730419:17,392,764G/Cuncertain significance
rs56630344619:17,392,775C/Tuncertain significance
rs74783286719:17,392,779A/Cuncertain significance
rs810024119:17,392,894G/Amissense variant
rs76680403619:17,392,937A/Guncertain significance
rs121088873019:17,392,948G/Alikely benign
rs143911285319:17,393,000G/Auncertain significance
rs74566031819:17,393,012A/Guncertain significance
rs125463647319:17,393,017C/Guncertain significance
rs76726972019:17,393,476C/Auncertain significance
rs74917675119:17,393,509G/Tuncertain significance
rs810817419:17,393,530T/Amissense variant
rs75180050519:17,393,557C/Tuncertain significance
rs76506817919:17,393,728G/Auncertain significance
rs251313214519:17,393,730G/Auncertain significance
rs54376484719:17,393,770G/Auncertain significance
rs75225653019:17,393,772A/Guncertain significance
rs76280614519:17,393,778G/Auncertain significance
rs133271042219:17,393,796G/Auncertain significance
rs75676692119:17,393,799C/Glikely benign
rs5606943919:17,393,925C/Aregulatory region variantbenign
rs5911999319:17,394,051C/Tbenign
rs75576225219:17,394,057G/Cuncertain significance
rs236395619:17,394,124T/Gmissense variant
rs20137756019:17,394,138G/Auncertain significance
rs76992147819:17,394,193C/Tuncertain significance
rs13938300419:17,394,240A/Cuncertain significance
rs76752536419:17,394,247T/Cuncertain significance
rs74538804419:17,394,289C/Auncertain significance
rs76200250219:17,394,394G/Auncertain significance
rs37754599419:17,394,457T/Cuncertain significance
rs54440320419:17,394,496G/Alikely benign
rs54696177219:17,394,507C/Tuncertain significance
rs14500350019:17,394,523G/Auncertain significance
rs77845217719:17,394,571C/Tuncertain significance
rs52929065619:17,394,578G/Tuncertain significance
rs14907547119:17,394,594G/Auncertain significance
rs76999239819:17,394,606G/Auncertain significance
rs251313440719:17,394,625G/Auncertain significance
rs14312817519:17,394,633C/Tlikely benign
rs251313448119:17,394,652C/Guncertain significance
rs76865944519:17,394,685G/Auncertain significance
rs142239573119:17,394,687G/Auncertain significance
rs91080690319:17,394,757C/Tuncertain significance
rs76718614419:17,394,943G/Auncertain significance
rs14638734619:17,394,982C/Guncertain significance
rs3411206919:17,395,038G/Abenign
rs121855109019:17,396,252C/Auncertain significance
rs14432631919:17,396,257C/Tuncertain significance
rs14159982419:17,396,263G/Auncertain significance
rs14618996519:17,396,272C/Tuncertain significance
rs74698991519:17,396,290G/Auncertain significance
rs15102132719:17,396,307C/Tuncertain significance
rs55100683019:17,396,308G/Alikely benign
rs251313714119:17,396,313A/Guncertain significance
rs148545266419:17,396,322G/Auncertain significance
rs14972729119:17,396,343C/Tuncertain significance
rs37657982119:17,396,378C/Auncertain significance
rs13811599619:17,396,523T/Gbenign
rs20185341819:17,396,542G/Auncertain significance
rs76559129919:17,396,547G/Auncertain significance
rs77561780319:17,396,548G/Auncertain significance
rs15024947019:17,396,563A/Guncertain significance
rs54704353019:17,396,583G/Auncertain significance
rs14620141819:17,396,584C/Tuncertain significance
rs37464643319:17,396,602G/Auncertain significance
rs14869401919:17,397,189G/Cuncertain significance
rs20009355819:17,397,198C/Tlikely benign
rs53924813619:17,397,258G/Auncertain significance
rs76235100819:17,397,263C/Tuncertain significance
rs76156671719:17,397,267G/Auncertain significance
rs19201143819:17,397,289C/Auncertain significance
rs56636541419:17,397,291G/Auncertain significance
rs37145451919:17,397,493G/Tbenign

Gene information from NCBI Gene. Variant classifications from ClinVar.