SMURF1
SMAD specific E3 ubiquitin protein ligase 1
Summary
This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs752711197 | 7:98,628,278 | C/T | — | uncertain significance |
| rs1377632681 | 7:98,628,298 | C/T | — | uncertain significance |
| rs1397349229 | 7:98,630,727 | C/T | — | uncertain significance |
| rs904254678 | 7:98,630,739 | T/C | — | uncertain significance |
| rs114043203 | 7:98,633,129 | G/A | — | benign |
| rs778012554 | 7:98,633,224 | G/A | — | uncertain significance |
| rs748802418 | 7:98,634,742 | T/C | — | uncertain significance |
| rs759288763 | 7:98,636,012 | G/A | — | uncertain significance |
| rs2485140792 | 7:98,636,023 | T/G | — | uncertain significance |
| rs146542045 | 7:98,636,075 | G/A | — | uncertain significance |
| rs140834487 | 7:98,638,110 | T/A | — | uncertain significance |
| rs149320056 | 7:98,639,759 | C/T | — | likely benign |
| rs2485154376 | 7:98,639,787 | T/G | — | uncertain significance |
| rs141532197 | 7:98,645,331 | T/C | — | likely benign |
| rs753192419 | 7:98,645,357 | G/A | — | uncertain significance |
| rs756980037 | 7:98,645,375 | C/T | — | uncertain significance |
| rs371448154 | 7:98,645,483 | G/A | — | uncertain significance |
| rs541278975 | 7:98,647,251 | T/C | — | uncertain significance |
| rs750758871 | 7:98,647,254 | C/A | — | uncertain significance |
| rs1031637913 | 7:98,648,572 | C/T | — | uncertain significance |
| rs2008258 | 7:98,649,628 | A/G | downstream gene variant | — |
| rs1795770782 | 7:98,649,828 | C/T | — | uncertain significance |
| rs2534932521 | 7:98,649,858 | G/A | — | uncertain significance |
| rs199969314 | 7:98,649,902 | T/A | — | uncertain significance |
| rs201427060 | 7:98,649,944 | C/T | — | uncertain significance |
| rs771846539 | 7:98,650,050 | C/T | — | uncertain significance |
| rs219797 | 7:98,650,051 | C/G | — | benign |
| rs773473254 | 7:98,650,052 | G/A | — | uncertain significance |
| rs1554440204 | 7:98,652,447 | C/T | — | uncertain significance |
| rs912935901 | 7:98,654,849 | C/T | — | uncertain significance |
| rs2534965531 | 7:98,658,234 | T/C | — | uncertain significance |
| rs756177480 | 7:98,658,301 | C/T | — | uncertain significance |
| rs149612750 | 7:98,699,980 | T/A | intron variant | — |
| rs187368374 | 7:98,703,957 | T/C | intron variant | — |
| rs573383551 | 7:98,723,900 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.