UPB1
beta-ureidopropionase 1
Summary
This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]
Known Variants177 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2070474 | 22:24,891,292 | G/C | — | benign |
| rs574700972 | 22:24,891,293 | C/T | — | uncertain significance |
| rs886057288 | 22:24,891,307 | T/C | — | uncertain significance |
| rs116629687 | 22:24,891,309 | C/T | — | likely benign |
| rs575811957 | 22:24,891,311 | C/T | — | uncertain significance |
| rs780314131 | 22:24,891,345 | G/C | — | uncertain significance |
| rs2070475 | 22:24,891,355 | A/T | — | benign |
| rs541169952 | 22:24,891,361 | G/A | — | uncertain significance |
| rs200677387 | 22:24,891,365 | C/G | — | likely benign |
| rs764932232 | 22:24,891,376 | C/G | — | uncertain significance |
| rs201559029 | 22:24,891,380 | C/T | — | likely benign |
| rs371262591 | 22:24,891,381 | G/A | — | uncertain significance |
| rs2043848634 | 22:24,891,396 | C/T | — | likely benign |
| rs755104394 | 22:24,891,397 | T/C | — | uncertain significance |
| rs200688546 | 22:24,891,409 | T/C | — | conflicting classifications of pathogenicity |
| rs764737466 | 22:24,891,412 | A/G | — | uncertain significance |
| rs199934207 | 22:24,891,418 | A/C | — | likely benign |
| rs185719774 | 22:24,891,425 | G/A | — | conflicting classifications of pathogenicity |
| rs375863821 | 22:24,891,430 | C/T | — | uncertain significance |
| rs148926761 | 22:24,891,433 | A/T | — | uncertain significance |
| rs141896929 | 22:24,891,453 | G/A | — | likely benign |
| rs200145797 | 22:24,891,462 | G/A | — | conflicting classifications of pathogenicity |
| rs145856948 | 22:24,893,867 | G/A | upstream gene variant | — |
| rs2232865 | 22:24,896,014 | A/G | — | not provided |
| rs184257763 | 22:24,896,069 | A/G | — | likely benign |
| rs138081800 | 22:24,896,073 | A/G | splice region variant | pathogenic |
| rs780484134 | 22:24,896,087 | G/A | — | likely benign |
| rs747615356 | 22:24,896,097 | G/A | — | uncertain significance |
| rs746855125 | 22:24,896,103 | G/A | — | uncertain significance |
| rs373573512 | 22:24,896,112 | T/C | — | uncertain significance |
| rs145989498 | 22:24,896,113 | C/G | — | uncertain significance |
| rs373673403 | 22:24,896,155 | C/T | — | uncertain significance |
| rs148225767 | 22:24,896,161 | A/G | — | uncertain significance |
| rs756272200 | 22:24,896,163 | C/T | — | pathogenic |
| rs766148534 | 22:24,896,173 | G/A | — | uncertain significance |
| rs754115355 | 22:24,896,176 | C/T | — | uncertain significance |
| rs755533170 | 22:24,896,178 | C/T | — | uncertain significance |
| rs121908066 | 22:24,896,179 | G/A | missense variant | uncertain significance |
| rs377713912 | 22:24,896,189 | C/T | — | likely benign |
| rs150740488 | 22:24,896,195 | G/T | — | conflicting classifications of pathogenicity |
| rs944610975 | 22:24,896,222 | C/T | — | likely benign |
| rs565810399 | 22:24,896,223 | G/A | — | uncertain significance |
| rs34035085 | 22:24,896,224 | C/T | missense variant | uncertain significance |
| rs758904899 | 22:24,896,245 | A/G | — | uncertain significance |
| rs2517961338 | 22:24,896,266 | T/C | — | likely benign |
| rs143220599 | 22:24,896,409 | C/G | regulatory region variant | — |
| rs756719003 | 22:24,898,108 | T/C | — | likely benign |
| rs750057554 | 22:24,898,113 | G/A | — | uncertain significance |
| rs779859166 | 22:24,898,120 | G/C | — | uncertain significance |
| rs778793828 | 22:24,898,126 | C/T | — | likely benign |
| rs1176402115 | 22:24,898,127 | G/A | — | conflicting classifications of pathogenicity |
| rs2044005298 | 22:24,898,142 | A/G | — | uncertain significance |
| rs140157113 | 22:24,898,169 | C/T | — | pathogenic |
| rs770091394 | 22:24,898,171 | G/A | — | conflicting classifications of pathogenicity |
| rs138872001 | 22:24,898,175 | G/T | — | conflicting classifications of pathogenicity |
| rs1019345080 | 22:24,898,182 | G/C | — | likely pathogenic |
| rs772212502 | 22:24,898,187 | T/G | — | pathogenic |
| rs147439637 | 22:24,898,369 | T/G | — | likely benign |
| rs181251778 | 22:24,901,968 | A/G | intron variant | — |
| rs79571400 | 22:24,906,650 | G/A | — | not provided |
| rs752667067 | 22:24,906,698 | C/T | — | likely benign |
| rs370760045 | 22:24,906,709 | A/G | — | likely benign |
| rs200161281 | 22:24,906,736 | T/C | — | conflicting classifications of pathogenicity |
| rs145368798 | 22:24,906,738 | C/G | — | uncertain significance |
| rs149187760 | 22:24,906,739 | G/A | — | conflicting classifications of pathogenicity |
| rs1490547109 | 22:24,906,750 | T/G | — | uncertain significance |
| rs775676598 | 22:24,906,751 | T/G | — | likely benign |
| rs762045757 | 22:24,909,279 | A/G | — | likely benign |
| rs199788632 | 22:24,909,296 | C/T | — | conflicting classifications of pathogenicity |
| rs766970389 | 22:24,909,297 | G/A | — | likely benign |
| rs2147026012 | 22:24,909,304 | C/T | — | uncertain significance |
| rs2044239622 | 22:24,909,320 | T/C | — | uncertain significance |
| rs770644036 | 22:24,909,337 | C/T | — | likely pathogenic |
| rs372357415 | 22:24,909,338 | G/A | — | uncertain significance |
| rs1568989805 | 22:24,909,341 | A/G | — | uncertain significance |
| rs145749836 | 22:24,909,346 | G/A | — | conflicting classifications of pathogenicity |
| rs371866039 | 22:24,909,371 | C/T | — | uncertain significance |
| rs773296277 | 22:24,909,375 | C/T | — | likely benign |
| rs760896351 | 22:24,909,383 | T/A | — | uncertain significance |
| rs777099704 | 22:24,909,394 | G/A | — | uncertain significance |
| rs144859482 | 22:24,909,405 | G/A | — | likely benign |
| rs1384941421 | 22:24,911,187 | G/A | — | uncertain significance |
| rs149294607 | 22:24,911,204 | C/T | — | likely benign |
| rs143521220 | 22:24,911,205 | G/A | — | uncertain significance |
| rs147994426 | 22:24,911,216 | G/A | — | likely benign |
| rs1296034492 | 22:24,911,217 | C/T | — | pathogenic |
| rs143438140 | 22:24,911,222 | C/G | — | uncertain significance |
| rs147133523 | 22:24,911,223 | G/A | — | uncertain significance |
| rs773774550 | 22:24,911,231 | C/T | — | conflicting classifications of pathogenicity |
| rs2044273030 | 22:24,911,237 | G/A | — | uncertain significance |
| rs74883165 | 22:24,911,249 | C/T | — | benign |
| rs766196011 | 22:24,911,250 | G/A | — | uncertain significance |
| rs754923905 | 22:24,911,254 | G/A | — | uncertain significance |
| rs1601505242 | 22:24,911,278 | T/A | — | uncertain significance |
| rs150690829 | 22:24,911,279 | G/A | — | uncertain significance |
| rs898820305 | 22:24,911,291 | C/T | — | likely benign |
| rs1047389346 | 22:24,911,301 | A/G | — | uncertain significance |
| rs368688414 | 22:24,911,304 | A/G | — | uncertain significance |
| rs753638837 | 22:24,911,317 | C/T | — | conflicting classifications of pathogenicity |
| rs200508190 | 22:24,911,318 | G/A | — | likely benign |
Showing 100 of 177 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.