USP40

ubiquitin specific peptidase 40

Summary

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]

Known Variants96 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs192970075	2:234,383,933	C/A	—	—
rs1387472868	2:234,386,061	T/A	—	uncertain significance
rs2470325145	2:234,386,063	G/C	—	uncertain significance
rs763920678	2:234,386,069	G/C	—	uncertain significance
rs537680578	2:234,386,078	G/C	—	uncertain significance
rs201649817	2:234,386,084	C/T	—	uncertain significance
rs200793850	2:234,386,091	G/A	—	uncertain significance
rs375600870	2:234,386,099	G/A	—	uncertain significance
rs2470325986	2:234,386,124	T/A	—	uncertain significance
rs550603137	2:234,389,871	G/A	—	uncertain significance
rs1233301539	2:234,389,891	C/T	—	uncertain significance
rs777496755	2:234,389,928	C/T	—	uncertain significance
rs2470406668	2:234,394,421	A/G	—	uncertain significance
rs774225087	2:234,394,454	A/T	—	uncertain significance
rs201639376	2:234,394,468	A/G	—	uncertain significance
rs559621031	2:234,394,478	C/T	—	uncertain significance
rs1048603	2:234,394,487	G/A	missense variant	—
rs143661480	2:234,394,489	T/C	missense variant	—
rs201966113	2:234,394,496	C/A	—	uncertain significance
rs374106216	2:234,394,541	C/T	—	likely benign
rs2470408731	2:234,394,565	G/A	—	uncertain significance
rs759305013	2:234,396,934	G/A	—	uncertain significance
rs368363244	2:234,398,020	T/C	—	uncertain significance
rs201011920	2:234,398,099	C/T	—	uncertain significance
rs369023446	2:234,399,829	G/A	—	likely benign
rs562879098	2:234,399,835	G/A	—	uncertain significance
rs745850338	2:234,399,838	G/A	—	uncertain significance
rs773386029	2:234,399,882	T/G	—	uncertain significance
rs201970236	2:234,399,883	T/C	—	uncertain significance
rs148968964	2:234,400,085	C/T	regulatory region variant	—
rs977684819	2:234,402,158	C/A	—	uncertain significance
rs199834849	2:234,405,459	A/T	—	uncertain significance
rs528273505	2:234,405,592	A/G	—	—
rs6704644	2:234,406,655	G/A	—	—
rs116321528	2:234,416,628	G/A	intron variant	—
rs2066699397	2:234,418,714	T/G	—	uncertain significance
rs1437304144	2:234,420,405	T/A	—	uncertain significance
rs375376271	2:234,420,440	G/A	—	uncertain significance
rs1317828768	2:234,421,220	C/A	—	uncertain significance
rs838552	2:234,422,029	A/G	intron variant	—
rs146673916	2:234,427,714	T/C	intron variant	—
rs576593620	2:234,428,301	C/T	—	uncertain significance
rs115999431	2:234,430,212	T/C	intron variant	—
rs368135434	2:234,431,847	T/C	—	likely benign
rs72982324	2:234,431,981	G/T	—	uncertain significance
rs202051483	2:234,431,993	C/T	—	uncertain significance
rs765827623	2:234,432,035	A/G	—	uncertain significance
rs760596187	2:234,432,093	G/C	—	uncertain significance
rs377650534	2:234,432,114	T/C	—	uncertain significance
rs146371325	2:234,432,123	G/A	missense variant	—
rs761917506	2:234,433,155	C/A	—	uncertain significance
rs200068889	2:234,433,190	C/G	—	uncertain significance
rs2470884397	2:234,434,189	C/A	—	uncertain significance
rs373226220	2:234,436,081	A/G	—	uncertain significance
rs775914882	2:234,436,108	T/C	—	uncertain significance
rs527497176	2:234,436,115	C/T	—	likely benign
rs201347288	2:234,436,178	G/C	—	uncertain significance
rs2470926877	2:234,438,079	T/G	—	uncertain significance
rs372317045	2:234,438,107	T/A	—	uncertain significance
rs187729049	2:234,438,757	T/C	intron variant	—
rs1385230428	2:234,442,322	T/C	—	uncertain significance
rs1009734401	2:234,442,347	G/C	—	uncertain significance
rs200985105	2:234,442,370	C/T	—	uncertain significance
rs771171907	2:234,442,373	A/C	—	uncertain significance
rs777140469	2:234,442,392	T/C	—	uncertain significance
rs185177860	2:234,443,272	G/A	—	—
rs192201144	2:234,445,766	G/A	intron variant	—
rs202235068	2:234,449,358	C/G	—	uncertain significance
rs2069494286	2:234,450,915	T/C	—	uncertain significance
rs2471056662	2:234,450,964	C/T	—	uncertain significance
rs372849264	2:234,457,753	C/G	—	uncertain significance
rs748597775	2:234,457,754	T/G	—	uncertain significance
rs762895546	2:234,457,806	C/T	—	uncertain significance
rs2070293324	2:234,457,826	A/G	—	uncertain significance
rs374697846	2:234,460,035	G/A	—	uncertain significance
rs868847710	2:234,460,099	C/A	—	uncertain significance
rs73996123	2:234,460,148	C/T	—	benign
rs201123578	2:234,463,130	C/T	—	uncertain significance
rs2471166330	2:234,463,133	A/T	—	uncertain significance
rs769233647	2:234,463,159	T/C	—	uncertain significance
rs779447484	2:234,465,509	C/T	—	uncertain significance
rs527366660	2:234,465,515	C/T	—	likely benign
rs372075127	2:234,465,568	C/T	—	uncertain significance
rs751825828	2:234,465,571	T/C	—	uncertain significance
rs146417018	2:234,465,618	G/A	—	benign
rs774512746	2:234,465,631	C/T	—	uncertain significance
rs376953955	2:234,468,485	G/A	—	uncertain significance
rs999339009	2:234,471,391	G/A	—	likely benign
rs2471259632	2:234,471,416	C/T	—	uncertain significance
rs939674208	2:234,474,038	G/A	—	uncertain significance
rs566205386	2:234,474,077	C/T	—	uncertain significance
rs746716991	2:234,474,107	G/A	—	uncertain significance
rs747996622	2:234,474,149	A/G	—	uncertain significance
rs1553585277	2:234,474,151	T/A	—	uncertain significance
rs889587994	2:234,474,190	T/A	—	uncertain significance
rs966808846	2:234,474,196	A/G	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.