AFTPH

aftiphilin

Summary

Enables clathrin binding activity. Predicted to be involved in intracellular transport. Located in Golgi apparatus; cytosol; and nucleoplasm. Part of AP-1 adaptor complex. [provided by Alliance of Genome Resources, Apr 2025]

Known Variants53 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1435331162:64,778,667C/Guncertain significance
rs25452179642:64,778,685A/Cuncertain significance
rs7575595392:64,778,768C/Auncertain significance
rs7623099572:64,778,781A/Guncertain significance
rs11839262442:64,778,814A/Guncertain significance
rs12537387242:64,779,096A/Tuncertain significance
rs25452199762:64,779,119T/Cuncertain significance
rs1467462062:64,779,150T/Guncertain significance
rs14376976522:64,779,152C/Guncertain significance
rs7759818552:64,779,233C/Tlikely benign
rs7816858882:64,779,267A/Guncertain significance
rs1477669832:64,779,285G/Auncertain significance
rs14674331252:64,779,384T/Cuncertain significance
rs7750458352:64,779,393G/Alikely benign
rs5490694052:64,779,437A/Guncertain significance
rs7665640862:64,779,442A/Cuncertain significance
rs7538051962:64,779,671G/Auncertain significance
rs5376255072:64,779,729A/Guncertain significance
rs7600553442:64,779,732C/Auncertain significance
rs2014071072:64,779,770A/Guncertain significance
rs7549227042:64,779,774A/Guncertain significance
rs25452236462:64,779,790A/Cuncertain significance
rs25452240042:64,779,859T/Guncertain significance
rs12928445362:64,779,861G/Cuncertain significance
rs7636669202:64,779,891A/Guncertain significance
rs7670644332:64,780,042T/Guncertain significance
rs5448512732:64,780,185C/Guncertain significance
rs2017248172:64,780,206A/Guncertain significance
rs16711491692:64,780,236C/Guncertain significance
rs3708095422:64,780,295T/Guncertain significance
rs3768812582:64,780,334G/Cuncertain significance
rs25452268362:64,780,367G/Auncertain significance
rs3705719802:64,780,443T/Cuncertain significance
rs7731366832:64,780,445G/Cuncertain significance
rs7704167812:64,780,455G/Cuncertain significance
rs349348152:64,780,466A/Glikely benign
rs7648196472:64,780,467C/Tlikely benign
rs5756007592:64,794,718A/Tuncertain significance
rs7664773812:64,794,780T/Guncertain significance
rs16722690102:64,796,281A/Guncertain significance
rs13403941522:64,796,318T/Auncertain significance
rs8682615652:64,796,342C/Tuncertain significance
rs12172043632:64,796,764C/Tuncertain significance
rs2016058852:64,796,775A/Cuncertain significance
rs10318417892:64,796,784G/Tuncertain significance
rs3702648172:64,796,788T/Cuncertain significance
rs7646550742:64,808,368G/Auncertain significance
rs8677095782:64,808,384C/Tuncertain significance
rs25453621502:64,808,393G/Cuncertain significance
rs25453621972:64,808,405C/Guncertain significance
rs37707192:64,819,059A/Guncertain significance
rs9745014442:64,819,126C/Tuncertain significance
rs5680646912:64,819,140A/Guncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.