PHAF1
phagophore assembly factor 1
Summary
Predicted to be involved in Golgi to plasma membrane protein transport. Located in phagophore assembly site. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1567640039 | 16:67,154,067 | C/G | — | uncertain significance |
| rs34017457 | 16:67,166,731 | G/A | missense variant | — |
| rs761929635 | 16:67,178,225 | A/G | — | uncertain significance |
| rs111855351 | 16:67,179,283 | C/G | — | uncertain significance |
| rs149463851 | 16:67,181,359 | G/A | — | likely benign |
| rs9033 | 16:67,181,999 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.