WDFY1
WD repeat and FYVE domain containing 1
Summary
The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs149448078 | 2:224,743,410 | G/A | — | uncertain significance |
| rs149953771 | 2:224,744,878 | C/T | — | uncertain significance |
| rs147668328 | 2:224,746,756 | C/T | — | uncertain significance |
| rs144718337 | 2:224,758,989 | C/T | — | uncertain significance |
| rs749977086 | 2:224,759,010 | C/T | — | uncertain significance |
| rs1693326106 | 2:224,759,042 | G/A | — | uncertain significance |
| rs1010327999 | 2:224,760,243 | T/C | — | uncertain significance |
| rs374628412 | 2:224,765,937 | C/T | — | uncertain significance |
| rs138584596 | 2:224,765,958 | T/C | — | uncertain significance |
| rs190220079 | 2:224,765,969 | C/T | — | uncertain significance |
| rs2469310684 | 2:224,770,674 | C/A | — | uncertain significance |
| rs756975381 | 2:224,770,676 | T/C | — | uncertain significance |
| rs2469310781 | 2:224,770,712 | G/A | — | uncertain significance |
| rs763265448 | 2:224,777,019 | T/C | — | uncertain significance |
| rs761395957 | 2:224,777,025 | G/A | — | uncertain significance |
| rs753473388 | 2:224,782,664 | C/A | — | uncertain significance |
| rs1272530017 | 2:224,782,702 | C/T | — | uncertain significance |
| rs777728576 | 2:224,782,719 | C/T | — | uncertain significance |
| rs34506355 | 2:224,809,529 | G/C | — | — |
| rs373916163 | 2:224,809,908 | G/C | — | uncertain significance |
| rs764018741 | 2:224,809,920 | T/A | — | uncertain significance |
| rs978730244 | 2:224,809,982 | G/C | — | uncertain significance |
| rs560983166 | 2:224,811,658 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.