SIAH3
siah E3 ubiquitin protein ligase family member 3
Summary
Predicted to enable ubiquitin conjugating enzyme binding activity and ubiquitin protein ligase activity. Involved in negative regulation of protein targeting to mitochondrion and regulation of protein stability. Located in mitochondrion and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs376056611 | 13:46,357,597 | A/T | — | uncertain significance |
| rs1950514297 | 13:46,357,813 | C/G | — | uncertain significance |
| rs201637980 | 13:46,357,851 | C/A | — | uncertain significance |
| rs200106527 | 13:46,357,853 | T/C | — | uncertain significance |
| rs1593373604 | 13:46,357,882 | T/G | — | uncertain significance |
| rs2500568776 | 13:46,357,921 | A/T | — | uncertain significance |
| rs775174664 | 13:46,357,945 | C/T | — | uncertain significance |
| rs887200512 | 13:46,358,006 | T/A | — | uncertain significance |
| rs1486494587 | 13:46,358,032 | G/A | — | uncertain significance |
| rs746335185 | 13:46,358,074 | G/A | — | uncertain significance |
| rs1566085741 | 13:46,358,092 | T/C | — | uncertain significance |
| rs774095126 | 13:46,358,095 | T/A | — | uncertain significance |
| rs200855950 | 13:46,358,101 | C/T | — | likely benign |
| rs776554014 | 13:46,358,105 | G/A | — | uncertain significance |
| rs201995806 | 13:46,358,111 | A/G | — | likely benign |
| rs1950516766 | 13:46,358,147 | C/T | — | uncertain significance |
| rs1355340228 | 13:46,358,158 | G/A | — | uncertain significance |
| rs537228749 | 13:46,358,167 | G/C | — | uncertain significance |
| rs186294042 | 13:46,388,824 | T/G | intron variant | — |
| rs759509142 | 13:46,391,456 | T/G | — | — |
| rs753865094 | 13:46,425,640 | T/C | — | uncertain significance |
| rs371277631 | 13:46,425,688 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.