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.