DENND5A

DENN domain containing 5A

Summary

This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]

Known Variants505 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11542754211:9,161,216G/T—likely benign
rs76320408111:9,161,226C/T—uncertain significance
rs184717031111:9,161,227G/A—likely benign
rs13821629311:9,161,245C/T—likely benign
rs77494080211:9,161,254C/T—likely benign
rs105751931011:9,161,271——pathogenic
rs14284803611:9,161,281C/T—likely benign
rs37664330611:9,161,287A/G—likely benign
rs101551844211:9,161,288C/T—uncertain significance
rs75809022211:9,161,300T/C—uncertain significance
rs213610681511:9,161,302G/C—likely benign
rs97659916011:9,161,305A/C—likely benign
rs143188984111:9,161,309G/A—uncertain significance
rs37134466611:9,161,347T/C—likely benign
rs37454317111:9,161,374G/A—likely benign
rs254221292311:9,161,386G/A—likely benign
rs184717704211:9,161,389T/A—likely benign
rs184717777711:9,161,404G/C—uncertain significance
rs20135886811:9,161,411C/T—likely benign
rs95413948611:9,161,412G/A—likely benign
rs141773315111:9,161,414G/A—likely benign
rs77476629511:9,161,415A/G—likely benign
rs136492832711:9,161,417C/G—likely benign
rs254221997611:9,163,467G/A—likely benign
rs97483743311:9,163,471C/A—likely benign
rs14053527811:9,163,519G/C—likely benign
rs74621728211:9,163,534G/A—likely benign
rs105751956411:9,163,538C/Tmissense variantpathogenic
rs76045984411:9,163,540G/A—likely benign
rs135996977811:9,163,558A/T—likely benign
rs20089862311:9,163,576G/C—uncertain significance
rs14455987611:9,163,602C/T—uncertain significance
rs13973185811:9,163,630T/C—likely benign
rs184726503511:9,163,644T/C—uncertain significance
rs37267164811:9,163,646T/A—uncertain significance
rs184726576711:9,163,663G/A—likely benign
rs91060010311:9,164,253C/T—likely benign
rs37330293811:9,164,282A/G—likely benign
rs78062881911:9,164,305G/A—uncertain significance
rs14530275011:9,164,309C/T—likely benign
rs74877993211:9,164,321A/G—likely benign
rs254222365611:9,164,323G/T—uncertain significance
rs37113061211:9,164,345C/T—benign
rs254222382111:9,164,358C/G—uncertain significance
rs135432707411:9,164,360C/T—likely benign
rs122464535611:9,164,369G/C—likely benign
rs144789549911:9,164,378C/T—likely benign
rs37005969111:9,164,379G/A—uncertain significance
rs138116048111:9,164,392G/A—likely pathogenic
rs19063127411:9,164,396C/G—likely benign
rs76181389511:9,164,397G/A—likely benign
rs254222401011:9,164,398T/C—likely benign
rs75052418311:9,164,403A/C—likely benign
rs75900987811:9,164,409G/A—likely benign
rs76696749711:9,164,411G/C—likely benign
rs254222669611:9,164,947C/A—uncertain significance
rs213611191811:9,164,949C/A—pathogenic
rs75203642611:9,164,967G/A—uncertain significance
rs75297400711:9,164,989G/C—likely benign
rs254222699911:9,164,994C/A—uncertain significance
rs20052365411:9,164,997C/G—uncertain significance
rs134463937811:9,165,011T/A—uncertain significance
rs213611206211:9,165,025G/A—likely benign
rs76486900111:9,165,042A/G—likely benign
rs254222936211:9,165,628C/T—likely benign
rs254222936711:9,165,630C/T—likely benign
rs36930954111:9,165,635C/T—likely benign
rs148826335511:9,165,646G/A—uncertain significance
rs126989331411:9,165,651G/A—likely benign
rs145808573311:9,165,682A/G—uncertain significance
rs20170153811:9,165,683T/C—uncertain significance
rs254222964411:9,165,687A/G—likely benign
rs37319081911:9,165,705C/T—likely benign
rs76964568811:9,165,706G/A—uncertain significance
rs132140545311:9,165,711G/T—likely benign
rs77127285211:9,165,712G/A—uncertain significance
rs11731512611:9,165,715C/T—conflicting classifications of pathogenicity
rs57039474811:9,165,716G/A—uncertain significance
rs254222987311:9,165,726C/T—likely benign
rs77266584511:9,165,732C/G—likely benign
rs77579551411:9,165,739G/A—uncertain significance
rs156487899211:9,165,812G/A—uncertain significance
rs75420025611:9,165,819C/T—likely benign
rs14034690811:9,165,822G/A—likely benign
rs37085527311:9,165,838C/A—likely benign
rs75610532611:9,165,841T/C—likely benign
rs77777622611:9,165,842G/A—likely benign
rs74938242711:9,165,844A/G—likely benign
rs121170503511:9,166,522C/T—likely benign
rs18827947211:9,166,530G/A—benign
rs254223307611:9,166,537C/T—uncertain significance
rs136892123811:9,166,566T/C—uncertain significance
rs37238910411:9,166,596T/A—uncertain significance
rs75720905411:9,166,604C/A—likely benign
rs76501148411:9,166,614T/C—uncertain significance
rs54837806111:9,166,634A/G—likely benign
rs15117910511:9,166,651A/T—uncertain significance
rs117412363811:9,166,655C/T—likely benign
rs254223385111:9,166,659C/A—uncertain significance
rs254223390911:9,166,669G/T—likely benign

Showing 100 of 505 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.