BEND3

BEN domain containing 3

Summary

Enables rDNA binding activity. Involved in negative regulation of macromolecule biosynthetic process; positive regulation of ATP metabolic process; and protein homooligomerization. Located in heterochromatin; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants46 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7827952246:107,390,045C/Tuncertain significance
rs3770992576:107,390,422C/Tuncertain significance
rs13351985316:107,390,431T/Cuncertain significance
rs17749058226:107,390,516T/Guncertain significance
rs24825224016:107,390,564T/Auncertain significance
rs1505723926:107,390,631G/Cuncertain significance
rs3702451006:107,390,676G/Tuncertain significance
rs14347445236:107,390,687T/Cuncertain significance
rs1905476976:107,390,911C/Tuncertain significance
rs754359156:107,390,955G/Abenign
rs7824064266:107,390,972G/Auncertain significance
rs7823166216:107,391,061G/Auncertain significance
rs7818712186:107,391,119G/Auncertain significance
rs12385611056:107,391,299C/Tlikely benign
rs1999914346:107,391,332C/Tuncertain significance
rs9336664846:107,391,340C/Auncertain significance
rs7823366856:107,391,416C/Tuncertain significance
rs7827767286:107,391,473G/Auncertain significance
rs7826130926:107,391,551C/Tuncertain significance
rs1489786666:107,391,581C/Tuncertain significance
rs5605629246:107,391,626C/Tuncertain significance
rs7820677096:107,391,679T/Cuncertain significance
rs617356656:107,391,775G/Auncertain significance
rs13176623426:107,391,828G/Tuncertain significance
rs7818157016:107,391,854T/Guncertain significance
rs15542319076:107,391,914C/Tuncertain significance
rs7818734296:107,391,953C/Guncertain significance
rs7821473716:107,391,955C/Tuncertain significance
rs7822675956:107,391,983T/Cuncertain significance
rs17749619316:107,392,030G/Cuncertain significance
rs1404753696:107,392,066T/Clikely benign
rs7827203176:107,392,129C/Tuncertain significance
rs16278046:107,400,428C/G
rs7825498196:107,419,768C/Tuncertain significance
rs3748833766:107,419,769G/Auncertain significance
rs3742744406:107,419,859T/Cuncertain significance
rs1507446966:107,419,895C/Tuncertain significance
rs7819803446:107,419,944G/Cuncertain significance
rs27830196:107,422,239G/Cintron variant
rs624279776:107,426,692G/Cregulatory region variant
rs605196666:107,427,166G/Aregulatory region variant
rs65684656:107,427,949A/T
rs624279806:107,432,912G/Aintron variant
rs16659016:107,433,400A/Tintron variant
rs1506046756:107,436,259C/Tregulatory region variant
rs624279826:107,437,166C/Tregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.