AIF1
allograft inflammatory factor 1
Summary
This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs542914466 | 6:31,581,037 | G/A | — | — |
| rs2259571 | 6:31,583,827 | T/A | — | — |
| rs34451818 | 6:31,583,841 | C/G | regulatory region variant | — |
| rs1774327927 | 6:31,583,895 | T/C | — | uncertain significance |
| rs2269475 | 6:31,583,931 | C/T | upstream gene variant | — |
| rs776266089 | 6:31,583,943 | G/C | — | uncertain significance |
| rs769724579 | 6:31,584,057 | C/T | — | likely benign |
| rs370403479 | 6:31,584,076 | A/G | — | uncertain significance |
| rs2533517630 | 6:31,584,079 | G/C | — | uncertain significance |
| rs916257402 | 6:31,584,085 | C/T | — | uncertain significance |
| rs1467201763 | 6:31,584,087 | C/T | — | uncertain significance |
| rs144177667 | 6:31,584,124 | T/C | — | uncertain significance |
| rs376563950 | 6:31,584,139 | G/A | — | likely benign |
| rs141116503 | 6:31,584,180 | C/A | — | uncertain significance |
| rs758360049 | 6:31,584,234 | C/G | — | uncertain significance |
| rs2857597 | 6:31,585,000 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.