APOBEC3H
apolipoprotein B mRNA editing enzyme catalytic subunit 3H
Summary
This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs60093835 | 22:39,493,356 | C/T | splice region variant | — |
| rs767346992 | 22:39,496,311 | C/T | — | uncertain significance |
| rs372088508 | 22:39,496,312 | G/A | — | uncertain significance |
| rs374766186 | 22:39,496,332 | C/T | — | uncertain significance |
| rs747509986 | 22:39,496,333 | G/A | — | uncertain significance |
| rs2518485106 | 22:39,496,386 | A/T | — | uncertain significance |
| rs202012802 | 22:39,496,405 | C/T | — | uncertain significance |
| rs146649681 | 22:39,496,417 | G/T | — | uncertain significance |
| rs11914001 | 22:39,496,744 | G/T | — | — |
| rs145141547 | 22:39,497,287 | A/G | — | uncertain significance |
| rs997573747 | 22:39,497,333 | C/T | — | uncertain significance |
| rs1269159494 | 22:39,497,405 | G/T | — | uncertain significance |
| rs112605061 | 22:39,497,412 | C/T | — | benign |
| rs746567012 | 22:39,497,413 | G/A | — | likely benign |
| rs1372676517 | 22:39,497,429 | A/G | — | uncertain significance |
| rs775745378 | 22:39,497,455 | G/T | — | uncertain significance |
| rs374311513 | 22:39,497,462 | G/A | — | likely benign |
| rs754592108 | 22:39,497,476 | T/A | — | uncertain significance |
| rs1929331467 | 22:39,497,501 | G/C | — | uncertain significance |
| rs775553421 | 22:39,497,505 | C/T | — | likely benign |
| rs139683887 | 22:39,497,982 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.