USP7

ubiquitin specific peptidase 7

Summary

The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]

Known Variants315 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14915049416:8,978,203G/A—likely benign
rs54931364116:8,979,096G/T—benign
rs214115620616:8,987,883A/C—likely pathogenic
rs36883791316:8,987,933T/C—likely benign
rs76275207616:8,987,944G/C—uncertain significance
rs75316010716:8,987,967G/A—likely benign
rs75615509016:8,987,970G/T—uncertain significance
rs53087903516:8,988,387G/T—likely benign
rs77789060116:8,988,390G/T—likely benign
rs37623718716:8,988,391G/C—benign
rs206165321716:8,988,406C/A—pathogenic
rs14995395716:8,988,408G/A—conflicting classifications of pathogenicity
rs206165338716:8,988,416G/A—uncertain significance
rs75064378716:8,988,420A/G—likely benign
rs95006333316:8,988,423G/T—uncertain significance
rs37118923516:8,988,446C/T—uncertain significance
rs133058364116:8,988,465G/A—likely benign
rs254921258516:8,988,484A/G—uncertain significance
rs19988731816:8,988,501A/C—likely benign
rs77320571816:8,988,517A/G—likely benign
rs11209451516:8,988,633C/A—uncertain significance
rs254921288416:8,988,640C/T—pathogenic
rs206165688016:8,988,661G/C—uncertain significance
rs254921289916:8,988,664T/G—uncertain significance
rs254921295716:8,988,684C/T—uncertain significance
rs214115809916:8,988,691T/C—uncertain significance
rs1155118316:8,988,692C/G—benign
rs254921297816:8,988,694C/A—uncertain significance
rs127206874116:8,988,700G/A—pathogenic
rs254921298816:8,988,709C/T—uncertain significance
rs14599331416:8,988,726G/A—benign
rs75980510416:8,988,732G/A—likely benign
rs36947023616:8,988,868G/A—likely benign
rs76267968016:8,988,879A/G—likely benign
rs254921345716:8,988,883C/T—uncertain significance
rs140080761816:8,988,885T/C—uncertain significance
rs132473680116:8,988,912G/A—likely benign
rs123030132816:8,988,983T/C—uncertain significance
rs75855004616:8,989,010G/A—likely benign
rs74717780316:8,989,013G/A—likely benign
rs19982833216:8,989,481A/G—likely benign
rs116451036316:8,989,482G/A—likely benign
rs6173119616:8,989,511C/T—benign
rs206167007516:8,989,516G/A—uncertain significance
rs206167019116:8,989,522T/C—uncertain significance
rs14119352516:8,989,544T/C—benign
rs254921462716:8,989,560T/C—uncertain significance
rs206167080016:8,989,579A/G—uncertain significance
rs254921467916:8,989,581C/G—uncertain significance
rs78003191916:8,989,592T/C—likely benign
rs74698931116:8,989,601G/A—uncertain significance
rs92657318616:8,989,606G/A—likely benign
rs13849055116:8,989,612A/C—benign
rs14410258816:8,990,863T/G—likely benign
rs53919324216:8,990,870T/C—benign
rs14073322516:8,990,879C/T—likely benign
rs75747241616:8,990,883A/G—uncertain significance
rs36889490916:8,990,890C/T—uncertain significance
rs254921650916:8,990,917C/G—uncertain significance
rs91876909816:8,990,919C/T—uncertain significance
rs254921651216:8,990,920G/A—uncertain significance
rs14976255716:8,990,927C/T—likely benign
rs77043794816:8,990,945T/C—likely benign
rs76413928016:8,990,973T/C—likely benign
rs152991616:8,991,190G/Aintron variant—
rs254921863016:8,992,205A/T—likely benign
rs74870435216:8,992,209A/T—likely benign
rs206172175616:8,992,261G/T—likely benign
rs254921869116:8,992,267T/C—uncertain significance
rs122047079916:8,992,292A/C—likely benign
rs74875683816:8,992,369C/T—likely benign
rs56203373716:8,992,397G/A—likely benign
rs214116698416:8,992,399A/G—uncertain significance
rs214116701916:8,992,432G/A—pathogenic
rs118752107516:8,992,451A/G—likely benign
rs76400447216:8,992,484G/A—likely benign
rs74989960116:8,992,512G/A—likely benign
rs37012279216:8,992,515T/C—benign
rs36842076016:8,992,958T/A—likely benign
rs254921997816:8,992,964C/T—likely benign
rs37448676616:8,992,998C/G—likely benign
rs254922004116:8,992,999A/C—uncertain significance
rs74966155016:8,993,013T/C—likely benign
rs206173644416:8,993,062A/T—likely benign
rs11367605216:8,993,065G/T—benign
rs53515871716:8,993,445A/T—likely benign
rs117304629816:8,993,478T/C—uncertain significance
rs254922084716:8,993,490T/A—uncertain significance
rs206174353816:8,993,509A/G—likely benign
rs206174452616:8,993,577C/T—uncertain significance
rs37214848316:8,993,578G/A—likely benign
rs254922099116:8,993,598C/T—uncertain significance
rs76558879116:8,993,633T/G—likely benign
rs206175801416:8,994,372T/C—likely benign
rs7597156316:8,994,379G/A—likely benign
rs14286917216:8,994,416T/C—likely benign
rs74701452716:8,994,441G/C—uncertain significance
rs55052225916:8,994,491C/T—benign
rs122392019716:8,994,837C/G—likely benign
rs254922323516:8,994,848T/C—uncertain significance

Showing 100 of 315 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.