DEPDC5

DEP domain containing 5, GATOR1 subcomplex subunit

Summary

This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

Known Variants1,823 total

rsidPosition (GRCh37)AllelesClassClinVar
rs138379544022:32,150,851G/C—pathogenic
rs214793015522:32,150,908A/G—uncertain significance
rs75614277322:32,150,912G/A—conflicting classifications of pathogenicity
rs37250694122:32,150,921A/G—uncertain significance
rs207519144722:32,150,925C/T—uncertain significance
rs74881314222:32,150,927A/G—uncertain significance
rs76824156322:32,150,928C/Gstop gainedpathogenic
rs37502704222:32,150,935G/A—uncertain significance
rs36913350822:32,150,949G/A—likely benign
rs37319915522:32,150,952C/T—likely benign
rs251765549922:32,150,957G/T—uncertain significance
rs88603927522:32,150,963G/C—not provided
rs251765570022:32,150,966G/A—likely pathogenic
rs251765571922:32,150,967T/C—likely pathogenic
rs106479491722:32,150,970G/C—pathogenic
rs207519552622:32,150,971T/C—uncertain significance
rs37664437122:32,150,974C/T—likely benign
rs76410830122:32,150,975G/A—likely benign
rs76762687022:32,150,980G/A—likely benign
rs214793122822:32,150,982C/T—likely benign
rs14338151422:32,151,113A/G—likely benign
rs14674470622:32,151,142A/G—likely benign
rs599811422:32,151,214A/G—benign
rs7966082822:32,154,372T/C—likely benign
rs11799715022:32,154,475A/G—likely benign
rs18601171222:32,154,502T/C—benign
rs106479594722:32,154,529C/G—uncertain significance
rs251773828422:32,154,530A/G—likely pathogenic
rs88603924322:32,154,531G/C—likely pathogenic
rs20011982622:32,154,542A/G—likely benign
rs57266087322:32,154,544T/G—likely benign
rs148594975422:32,154,553C/T—uncertain significance
rs208212484422:32,154,555A/G—uncertain significance
rs251773886722:32,154,556A/G—uncertain significance
rs37479433422:32,154,563C/G—uncertain significance
rs130500718622:32,154,567C/T—uncertain significance
rs76054166022:32,154,568A/G—uncertain significance
rs208212595522:32,154,569C/T—likely benign
rs36803515922:32,154,570A/G—uncertain significance
rs102338980822:32,154,586T/C—uncertain significance
rs56646368822:32,154,587T/G—uncertain significance
rs76366971722:32,154,602C/A—uncertain significance
rs75687884322:32,154,603C/G—uncertain significance
rs160158189922:32,154,605C/T—likely benign
rs251774033122:32,154,607A/G—uncertain significance
rs36824359522:32,154,608C/T—likely benign
rs76920815022:32,154,610A/T—uncertain significance
rs53563097522:32,154,611T/A—likely benign
rs208212939122:32,154,613A/G—uncertain significance
rs74826403522:32,154,624G/A—likely benign
rs123807668922:32,154,626G/A—likely benign
rs77199722222:32,154,628C/G—likely benign
rs214799226822:32,154,637T/C—likely benign
rs75935004122:32,154,639C/T—likely benign
rs37599961722:32,156,600C/T—likely benign
rs19262405522:32,156,625G/A—likely benign
rs116810330322:32,156,632T/G—likely benign
rs139885155622:32,156,639C/G—uncertain significance
rs214802731222:32,156,640A/C—pathogenic
rs251779645122:32,156,641G/C—likely pathogenic
rs214802739622:32,156,650T/A—uncertain significance
rs251779667022:32,156,653T/C—uncertain significance
rs20131211322:32,156,656A/C—benign
rs76283570022:32,156,660C/G—likely benign
rs96668957922:32,156,662A/G—uncertain significance
rs214802764222:32,156,665C/A—uncertain significance
rs251779705722:32,156,670A/G—uncertain significance
rs251779710122:32,156,673G/C—uncertain significance
rs55052573922:32,156,675A/G—likely benign
rs214802776022:32,156,681A/G—likely benign
rs37271880522:32,156,682C/T—pathogenic
rs88603924522:32,156,689G/A—pathogenic
rs214802791122:32,156,691A/G—uncertain significance
rs208231614322:32,156,693G/A—uncertain significance
rs132235249422:32,156,698A/G—likely benign
rs76125453622:32,156,699T/A—likely benign
rs37609917922:32,156,700A/G—benign
rs208231757122:32,156,702C/T—likely benign
rs116346230022:32,156,707T/C—likely benign
rs18938819222:32,157,225C/Gdownstream gene variant—
rs11171234922:32,160,708T/C—benign
rs7445938122:32,160,864A/G—benign
rs100420744122:32,160,942G/A—likely benign
rs74613730422:32,160,945A/G—likely benign
rs75284863122:32,160,956T/C—likely benign
rs74909303022:32,160,958T/C—uncertain significance
rs214810274322:32,160,960G/C—likely pathogenic
rs155652368222:32,160,963A/T—uncertain significance
rs118308790422:32,160,969A/G—uncertain significance
rs77420636322:32,160,971T/C—likely benign
rs214810312322:32,160,978C/T—pathogenic
rs208269508222:32,160,991A/C—uncertain significance
rs208269571022:32,160,998C/G—uncertain significance
rs20223362722:32,160,999C/T—uncertain significance
rs37357885422:32,161,000G/A—uncertain significance
rs141759968122:32,161,012A/T—uncertain significance
rs214810377422:32,161,014C/T—pathogenic
rs18344353322:32,161,019T/C—likely benign
rs75206792522:32,161,023T/C—uncertain significance
rs37703986422:32,161,024A/G—uncertain significance

Showing 100 of 1,823 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.