APOBEC1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
Summary
This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12820011 | 12:7,802,147 | C/T | — | uncertain significance |
| rs2497284182 | 12:7,802,205 | T/C | — | uncertain significance |
| rs149124082 | 12:7,803,645 | C/T | — | uncertain significance |
| rs2497290737 | 12:7,805,067 | T/C | — | uncertain significance |
| rs747219662 | 12:7,805,070 | T/A | — | uncertain significance |
| rs143430302 | 12:7,805,155 | G/C | — | uncertain significance |
| rs147151417 | 12:7,805,210 | G/C | — | uncertain significance |
| rs370419195 | 12:7,805,292 | C/T | — | uncertain significance |
| rs756281691 | 12:7,805,334 | G/A | — | uncertain significance |
| rs34275479 | 12:7,805,414 | C/T | — | likely benign |
| rs1565440016 | 12:7,805,424 | T/C | — | uncertain significance |
| rs10845640 | 12:7,812,457 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.