ANKRD13D

ankyrin repeat domain 13D

Summary

The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integral membrane proteins that bind specifically to Lys-63-linked ubiquitin chains on membrane-bound proteins, targeting those proteins for rapid internalization. [provided by RefSeq, Dec 2016]

Known Variants35 total

rsidPosition (GRCh37)AllelesClassClinVar
rs249580134411:67,056,954T/Guncertain significance
rs140054494511:67,056,963A/Cuncertain significance
rs136216144311:67,056,968C/Guncertain significance
rs103940294511:67,056,983C/Tuncertain significance
rs18318884111:67,057,574G/Auncertain significance
rs143777476811:67,057,675G/Auncertain significance
rs38635227711:67,057,817G/Tuncertain significance
rs37037508511:67,059,124C/Tuncertain significance
rs53832846311:67,059,185G/Auncertain significance
rs15048612111:67,059,191G/Auncertain significance
rs37180213011:67,059,498G/Auncertain significance
rs77626221911:67,059,530A/Cuncertain significance
rs76796406411:67,059,564T/Cuncertain significance
rs249581887011:67,059,590A/Cuncertain significance
rs76956648811:67,059,608A/Guncertain significance
rs14206830511:67,065,755G/A
rs249584464011:67,066,565G/Tuncertain significance
rs37143565611:67,066,587G/Auncertain significance
rs75232183011:67,067,008G/Auncertain significance
rs14423869111:67,067,357G/Auncertain significance
rs77883263911:67,067,564G/Tuncertain significance
rs186096681611:67,068,565A/Guncertain significance
rs75149316311:67,068,609G/Auncertain significance
rs77132459711:67,068,783G/Auncertain significance
rs125866181711:67,068,836G/Tuncertain significance
rs76133855811:67,068,991G/Auncertain significance
rs121718599011:67,069,010G/Cuncertain significance
rs14139296911:67,069,034G/Auncertain significance
rs77769337211:67,069,039G/Auncertain significance
rs249585938511:67,069,046T/Auncertain significance
rs74918744011:67,069,103C/Guncertain significance
rs77608434311:67,069,233C/Tuncertain significance
rs78092688611:67,069,293C/Tuncertain significance
rs136316261011:67,069,591G/Auncertain significance
rs138354486311:67,069,772G/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.