FZR1
fizzy and cell division cycle 20 related 1
Summary
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in anaphase-promoting complex-dependent catabolic process; mitotic G2 DNA damage checkpoint signaling; and positive regulation of ubiquitin protein ligase activity. Located in nuclear membrane and nucleoplasm. Implicated in developmental and epileptic encephalopathy 109. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2512264431 | 19:3,522,997 | G/T | — | uncertain significance |
| rs369267353 | 19:3,523,054 | C/T | — | likely benign |
| rs371487179 | 19:3,523,056 | C/T | — | likely benign |
| rs868008980 | 19:3,525,956 | G/A | — | uncertain significance |
| rs139197779 | 19:3,526,128 | A/C | — | uncertain significance |
| rs146055485 | 19:3,526,160 | G/A | — | uncertain significance |
| rs757634430 | 19:3,526,177 | C/T | — | uncertain significance |
| rs2512273075 | 19:3,526,335 | A/T | — | uncertain significance |
| rs373146649 | 19:3,526,341 | G/A | — | uncertain significance |
| rs763704238 | 19:3,526,383 | C/T | — | uncertain significance |
| rs138835338 | 19:3,527,019 | C/T | — | benign |
| rs2083173839 | 19:3,527,634 | A/T | — | uncertain significance |
| rs372570068 | 19:3,527,646 | C/G | — | uncertain significance |
| rs2512277057 | 19:3,527,717 | G/A | — | pathogenic |
| rs2512277062 | 19:3,527,718 | A/G | — | pathogenic |
| rs537404743 | 19:3,529,152 | A/C | — | — |
| rs543234409 | 19:3,530,837 | C/T | — | benign |
| rs140377183 | 19:3,531,788 | T/C | — | uncertain significance |
| rs745701728 | 19:3,531,911 | G/A | — | uncertain significance |
| rs202153731 | 19:3,531,959 | A/G | — | uncertain significance |
| rs2512293056 | 19:3,531,980 | C/T | — | uncertain significance |
| rs1249327818 | 19:3,532,008 | G/A | — | uncertain significance |
| rs2512293355 | 19:3,532,023 | G/A | — | uncertain significance |
| rs2512293384 | 19:3,532,031 | G/C | — | likely pathogenic |
| rs1002017728 | 19:3,532,084 | C/G | — | pathogenic |
| rs2122021136 | 19:3,532,487 | A/G | — | uncertain significance |
| rs2083259164 | 19:3,532,532 | G/A | — | conflicting classifications of pathogenicity |
| rs2512294831 | 19:3,532,538 | G/A | — | uncertain significance |
| rs740681 | 19:3,533,274 | G/C | — | — |
| rs1441144502 | 19:3,534,797 | C/G | — | uncertain significance |
| rs77733715 | 19:3,537,184 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.