CDA
cytidine deaminase
Summary
This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. [provided by RefSeq, Jul 2008]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs532545 | 1:20,915,172 | C/A | — | — |
| rs602946 | 1:20,915,535 | G/A | — | — |
| rs2072671 | 1:20,915,701 | A/C | missense variant | — |
| rs202011087 | 1:20,915,738 | G/C | — | uncertain significance |
| rs588485 | 1:20,916,444 | G/T | — | — |
| rs472629 | 1:20,917,108 | G/A | regulatory region variant | — |
| rs61735379 | 1:20,931,449 | G/A | — | benign |
| rs60369023 | 1:20,931,474 | G/A | missense variant | — |
| rs76249360 | 1:20,931,476 | T/C | — | benign |
| rs779268592 | 1:20,931,525 | A/C | — | uncertain significance |
| rs549266010 | 1:20,940,354 | A/G | — | uncertain significance |
| rs138796458 | 1:20,944,474 | G/A | intron variant | — |
| rs199502881 | 1:20,944,971 | G/A | — | uncertain significance |
| rs1468700247 | 1:20,944,979 | C/T | — | uncertain significance |
| rs150616210 | 1:20,944,988 | C/T | — | uncertain significance |
| rs1048977 | 1:20,945,055 | C/T | synonymous variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.