APOBEC3B
apolipoprotein B mRNA editing enzyme catalytic subunit 3B
Summary
This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371593494 | 22:39,380,085 | C/G | — | uncertain significance |
| rs113972364 | 22:39,380,131 | C/T | — | benign |
| rs755159659 | 22:39,380,145 | A/G | — | uncertain significance |
| rs372003442 | 22:39,380,157 | A/G | — | uncertain significance |
| rs143126732 | 22:39,380,195 | C/T | — | likely benign |
| rs149211753 | 22:39,380,237 | G/T | — | uncertain significance |
| rs151303359 | 22:39,381,904 | A/C | — | benign |
| rs763817137 | 22:39,382,304 | A/C | — | likely benign |
| rs149853261 | 22:39,382,396 | G/A | — | likely benign |
| rs746566442 | 22:39,385,486 | C/G | — | uncertain significance |
| rs35949382 | 22:39,385,510 | T/C | — | benign |
| rs200770515 | 22:39,385,523 | C/T | — | likely benign |
| rs140420815 | 22:39,385,595 | A/G | — | uncertain significance |
| rs1603269086 | 22:39,387,451 | T/A | — | uncertain significance |
| rs772771449 | 22:39,387,459 | C/A | — | uncertain significance |
| rs772607602 | 22:39,387,530 | G/A | — | uncertain significance |
| rs770453697 | 22:39,387,592 | C/T | — | uncertain significance |
| rs6001357 | 22:39,388,046 | G/C | — | likely benign |
| rs147545511 | 22:39,388,071 | C/T | — | conflicting classifications of pathogenicity |
| rs1053813 | 22:39,388,072 | G/A | — | likely benign |
| rs1263458096 | 22:39,388,089 | C/G | — | uncertain significance |
| rs145606871 | 22:39,388,092 | C/A | — | uncertain significance |
| rs747995529 | 22:39,388,141 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.