HIF1AN
hypoxia inducible factor 1 subunit alpha inhibitor
Summary
Enables several functions, including 2-oxoglutarate-dependent dioxygenase activity; NF-kappaB binding activity; and transition metal ion binding activity. Involved in negative regulation of Notch signaling pathway and positive regulation of myoblast differentiation. Located in cytosol; nucleoplasm; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs192526090 | 10:102,295,212 | A/T | regulatory region variant | — |
| rs377650841 | 10:102,295,788 | C/G | — | uncertain significance |
| rs2295778 | 10:102,295,836 | C/G | missense variant | — |
| rs2492941036 | 10:102,296,381 | A/C | — | uncertain significance |
| rs776914556 | 10:102,296,390 | G/T | — | uncertain significance |
| rs7905961 | 10:102,297,391 | G/C | intron variant | — |
| rs767488139 | 10:102,300,410 | C/T | — | uncertain significance |
| rs1843019144 | 10:102,300,533 | A/G | — | uncertain significance |
| rs11190604 | 10:102,302,457 | A/G | intron variant | — |
| rs764495367 | 10:102,306,918 | A/G | — | uncertain significance |
| rs11292 | 10:102,313,607 | A/G | 3 prime UTR variant | — |
| rs57467326 | 10:102,317,557 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.