A1CF
APOBEC1 complementation factor
Summary
Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs923766063 | 10:52,566,578 | G/T | — | uncertain significance |
| rs1458838950 | 10:52,566,632 | C/G | — | uncertain significance |
| rs554001161 | 10:52,569,689 | A/G | — | uncertain significance |
| rs754576524 | 10:52,569,763 | A/C | — | uncertain significance |
| rs762801846 | 10:52,569,774 | C/A | — | uncertain significance |
| rs771577560 | 10:52,569,800 | T/G | — | uncertain significance |
| rs764912426 | 10:52,573,634 | T/C | — | uncertain significance |
| rs763289449 | 10:52,573,664 | T/C | — | uncertain significance |
| rs752049890 | 10:52,573,669 | G/A | — | uncertain significance |
| rs766706018 | 10:52,573,769 | G/A | — | uncertain significance |
| rs41274050 | 10:52,573,772 | C/T | — | likely benign |
| rs757450367 | 10:52,573,792 | G/A | — | uncertain significance |
| rs924638663 | 10:52,573,797 | C/T | — | likely benign |
| rs781105145 | 10:52,575,795 | C/G | — | uncertain significance |
| rs142026324 | 10:52,576,025 | G/A | — | benign |
| rs1338108823 | 10:52,580,322 | A/G | — | uncertain significance |
| rs61742973 | 10:52,595,853 | C/T | — | benign |
| rs770672918 | 10:52,595,856 | C/T | — | uncertain significance |
| rs767553962 | 10:52,595,963 | C/A | — | uncertain significance |
| rs755690056 | 10:52,601,710 | C/T | — | uncertain significance |
| rs35967725 | 10:52,603,754 | G/A | — | benign |
| rs139143762 | 10:52,603,764 | A/G | — | uncertain significance |
| rs763063211 | 10:52,603,774 | C/T | — | uncertain significance |
| rs764700910 | 10:52,603,831 | G/T | — | uncertain significance |
| rs142969066 | 10:52,603,874 | T/C | — | benign |
| rs1034920556 | 10:52,603,875 | C/T | — | uncertain significance |
| rs12570156 | 10:52,609,008 | T/C | intron variant | — |
| rs748686824 | 10:52,610,504 | C/T | — | uncertain significance |
| rs544977036 | 10:52,612,863 | T/G | — | — |
| rs144601492 | 10:52,638,678 | C/G | intron variant | — |
| rs17500776 | 10:52,639,657 | G/T | — | — |
| rs17500846 | 10:52,642,384 | A/G | regulatory region variant | — |
| rs151068477 | 10:52,642,516 | G/T | regulatory region variant | — |
| rs10821905 | 10:52,646,093 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.