ZPR1
ZPR1 zinc finger
Summary
The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11216135 | 11:116,646,062 | C/G | downstream gene variant | — |
| rs2160669 | 11:116,647,607 | C/T | regulatory region variant | — |
| rs11823543 | 11:116,649,135 | G/A | downstream gene variant | — |
| rs148642555 | 11:116,649,645 | C/T | — | uncertain significance |
| rs757653816 | 11:116,649,646 | G/A | — | uncertain significance |
| rs2540228825 | 11:116,649,654 | G/C | — | uncertain significance |
| rs150719892 | 11:116,649,732 | C/G | — | uncertain significance |
| rs755149164 | 11:116,649,760 | C/G | — | uncertain significance |
| rs144966144 | 11:116,649,765 | G/A | — | benign |
| rs75198898 | 11:116,649,806 | G/A | downstream gene variant | — |
| rs139636218 | 11:116,650,295 | T/C | upstream gene variant | — |
| rs2540229795 | 11:116,650,498 | C/A | — | uncertain significance |
| rs113271699 | 11:116,650,571 | C/A | upstream gene variant | — |
| rs113932726 | 11:116,650,638 | C/T | upstream gene variant | — |
| rs188521133 | 11:116,650,765 | T/C | upstream gene variant | — |
| rs12286037 | 11:116,652,207 | C/T | intron variant | — |
| rs12274192 | 11:116,652,351 | A/G | intron variant | — |
| rs6589566 | 11:116,652,423 | G/T | — | — |
| rs11550892 | 11:116,652,892 | A/T | — | likely benign |
| rs2075290 | 11:116,653,296 | C/G | — | — |
| rs149166618 | 11:116,653,643 | G/A | — | uncertain significance |
| rs2540232268 | 11:116,653,664 | C/T | — | uncertain significance |
| rs779153303 | 11:116,654,265 | A/G | — | uncertain significance |
| rs1454119244 | 11:116,654,297 | C/G | — | uncertain significance |
| rs603446 | 11:116,654,435 | C/A | — | — |
| rs193109454 | 11:116,655,004 | C/G | intron variant | — |
| rs201594268 | 11:116,655,105 | G/A | — | uncertain significance |
| rs1474390198 | 11:116,655,129 | T/C | — | uncertain significance |
| rs1280608434 | 11:116,655,618 | T/A | — | uncertain significance |
| rs140390701 | 11:116,655,859 | C/T | missense variant | Likely benign |
| rs181857790 | 11:116,656,258 | C/T | — | likely benign |
| rs777506725 | 11:116,656,288 | G/A | — | uncertain significance |
| rs368697578 | 11:116,656,348 | A/G | — | pathogenic |
| rs2540236017 | 11:116,656,565 | C/T | — | uncertain significance |
| rs140812201 | 11:116,656,586 | C/G | — | uncertain significance |
| rs10750096 | 11:116,656,788 | C/T | — | — |
| rs3741298 | 11:116,657,561 | C/A | — | — |
| rs200984841 | 11:116,657,653 | G/A | downstream gene variant | — |
| rs3741297 | 11:116,657,667 | C/T | downstream gene variant | — |
| rs765886389 | 11:116,658,216 | C/A | — | uncertain significance |
| rs372172078 | 11:116,658,295 | G/A | — | uncertain significance |
| rs2540239471 | 11:116,658,549 | T/G | — | uncertain significance |
| rs199577752 | 11:116,658,592 | C/T | — | uncertain significance |
| rs1940919008 | 11:116,658,646 | C/T | — | uncertain significance |
| rs201399491 | 11:116,658,654 | G/C | missense variant | — |
| rs762919155 | 11:116,658,661 | C/T | — | uncertain significance |
| rs142958146 | 11:116,660,008 | A/G | upstream gene variant | — |
| rs72525532 | 11:116,660,558 | — | — | — |
| rs2266788 | 11:116,660,686 | G/A | upstream gene variant | risk factor |
Gene information from NCBI Gene. Variant classifications from ClinVar.