ANKFY1

ankyrin repeat and FYVE domain containing 1

Summary

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]

Known Variants129 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14978848217:4,071,063G/A—likely benign
rs136014000117:4,071,114T/C—uncertain significance
rs37450287117:4,071,150T/C—uncertain significance
rs144309941717:4,071,188A/C—uncertain significance
rs1695376317:4,071,245C/T—benign
rs479058317:4,071,302C/G—benign
rs479017817:4,071,326G/C—benign
rs53193882617:4,072,555C/G—uncertain significance
rs77989756417:4,072,574A/G—uncertain significance
rs1695376617:4,072,707G/A—benign
rs7724617517:4,072,761G/C—benign
rs75564042117:4,074,078T/C—uncertain significance
rs36803738317:4,074,111C/T—uncertain significance
rs14439751717:4,074,124G/A—likely benign
rs20201130917:4,074,164C/A—likely benign
rs89703017:4,074,261A/C—benign
rs89519366717:4,075,866C/T—uncertain significance
rs250776251017:4,075,919A/G—uncertain significance
rs250776280317:4,075,965G/C—uncertain significance
rs20009492017:4,075,966T/G—likely benign
rs381648017:4,076,615C/T—benign
rs53985686317:4,076,666G/A—likely benign
rs989522017:4,076,669G/A—benign
rs19991329717:4,076,681C/G—uncertain significance
rs55450660217:4,076,694A/G—uncertain significance
rs11216951017:4,076,997G/A—benign
rs75843238017:4,077,240C/T—uncertain significance
rs124655618817:4,077,339C/A—uncertain significance
rs250777378317:4,077,346A/G—likely benign
rs479058517:4,077,485G/A—benign
rs172894476517:4,080,434A/G—uncertain significance
rs250778948617:4,080,435T/C—uncertain significance
rs97077272617:4,080,513C/T—uncertain significance
rs227852417:4,081,975G/A—benign
rs77544028417:4,082,162G/C—uncertain significance
rs20073427617:4,082,166C/T—uncertain significance
rs13999425817:4,082,191G/C—likely benign
rs91986784717:4,082,252C/T—uncertain significance
rs86832252017:4,082,271C/T—uncertain significance
rs146771352217:4,082,304C/T—likely benign
rs37755004417:4,082,325C/T—uncertain significance
rs19955076217:4,083,127T/C—likely benign
rs77787228117:4,083,134T/C—uncertain significance
rs127476543417:4,083,147G/C—uncertain significance
rs118234550717:4,083,162C/T—uncertain significance
rs1776405317:4,083,220G/A—benign
rs991592217:4,083,242T/C—benign
rs1294351717:4,083,923G/Aintron variant—
rs11738249617:4,084,608C/T—benign
rs7798855417:4,084,817C/G—benign
rs7829713717:4,085,322G/A—benign
rs37433512517:4,085,528G/A—uncertain significance
rs20191086017:4,085,567C/T—likely benign
rs180882017:4,085,834C/A—benign
rs20052411817:4,086,735C/T—uncertain significance
rs76012558517:4,086,757T/C—uncertain significance
rs75354536117:4,086,763T/C—uncertain significance
rs19950220517:4,086,805C/T—benign
rs14835679517:4,086,836C/T—benign
rs75991389517:4,087,166G/A—uncertain significance
rs11425557917:4,087,914C/T—benign
rs99119915017:4,088,128T/C—uncertain significance
rs205958179417:4,088,131C/G—uncertain significance
rs94048337517:4,088,191C/T—likely benign
rs77965079517:4,088,219G/T—likely benign
rs119807981617:4,088,269C/T—uncertain significance
rs122004429317:4,088,284G/A—uncertain significance
rs202011817:4,088,291T/C—benign
rs20190084317:4,088,313C/T—uncertain significance
rs75904337917:4,092,757G/A—uncertain significance
rs11312817717:4,092,938G/C—benign
rs1294829817:4,092,968A/G—benign
rs20220837517:4,098,264G/A—likely benign
rs6206436717:4,098,278G/A—likely benign
rs131898914017:4,098,299T/C—uncertain significance
rs75900857317:4,098,325T/G—likely benign
rs250788830617:4,098,334G/T—uncertain significance
rs75501527117:4,098,348A/C—uncertain significance
rs20027498417:4,098,694G/A—likely benign
rs205980010817:4,098,731T/A—uncertain significance
rs75500394117:4,098,737C/G—uncertain significance
rs19987184817:4,098,747T/G—uncertain significance
rs139093761617:4,098,755T/G—uncertain significance
rs57583870117:4,098,770C/T—likely benign
rs650277317:4,100,591C/T—benign
rs36864710217:4,100,702C/G—uncertain significance
rs77225903717:4,100,706C/T—likely benign
rs37091177917:4,100,767G/A—uncertain significance
rs131061948517:4,100,825T/G—uncertain significance
rs36761141817:4,100,858C/G—uncertain significance
rs806644617:4,101,198G/Aintron variant—
rs37469675017:4,109,686A/G—likely benign
rs250793365617:4,109,694T/C—uncertain significance
rs374467117:4,109,722G/A—benign
rs123144463417:4,109,748C/T—uncertain significance
rs20111779217:4,109,761T/A—uncertain significance
rs77901703617:4,109,774C/T—uncertain significance
rs20109846117:4,111,325T/C—uncertain significance
rs722260317:4,112,922G/C—benign
rs20216188317:4,113,150T/C—uncertain significance

Showing 100 of 129 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.