ARHGEF1

Rho guanine nucleotide exchange factor 1

Summary

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]

Known Variants613 total

rsidPosition (GRCh37)AllelesClassClinVar
rs20197824019:42,388,536T/A—uncertain significance
rs155584490519:42,388,544C/T—uncertain significance
rs55558529719:42,388,548C/G—uncertain significance
rs155584491719:42,388,557G/A—uncertain significance
rs207426379719:42,388,571C/T—likely benign
rs130987501119:42,388,573G/A—likely benign
rs37015763519:42,388,576C/T—likely benign
rs4130943719:42,391,957G/Aregulatory region variant—
rs78231627619:42,392,122C/G—likely benign
rs2839619719:42,392,130T/C—benign
rs207432160519:42,392,131C/T—likely benign
rs54589511119:42,392,137C/T—likely benign
rs251375344719:42,392,138T/C—likely benign
rs97651220319:42,392,140C/G—uncertain significance
rs78198566919:42,392,144G/A—likely benign
rs207432187819:42,392,151G/C—uncertain significance
rs155584552019:42,392,153G/C—uncertain significance
rs92095022819:42,392,165C/T—likely benign
rs15082187319:42,392,166G/A—uncertain significance
rs18359838619:42,392,170G/C—uncertain significance
rs78189865119:42,392,173G/C—uncertain significance
rs37021964719:42,392,176C/T—uncertain significance
rs52806288119:42,392,189G/C—likely benign
rs78180921119:42,392,195G/T—likely benign
rs78253143719:42,392,196G/A—uncertain significance
rs36837267019:42,392,245T/C—likely benign
rs78215737919:42,392,248C/G—likely benign
rs78236852819:42,392,249C/G—likely benign
rs20021367619:42,392,253C/G—benign
rs251375497819:42,392,263G/A—uncertain significance
rs155584555219:42,392,276C/G—uncertain significance
rs134910475919:42,392,281C/T—uncertain significance
rs78179349019:42,392,282G/A—uncertain significance
rs141076429819:42,392,283G/T—likely benign
rs78281043319:42,392,290C/T—likely benign
rs155584556919:42,392,292G/C—likely benign
rs78190432119:42,392,293G/C—uncertain significance
rs78265298319:42,392,298C/T—likely benign
rs120472183719:42,392,301C/A—uncertain significance
rs251375561919:42,392,307C/A—likely benign
rs228850919:42,392,310C/T—benign
rs4130698419:42,392,337C/T—likely benign
rs78202085519:42,392,368G/A—likely benign
rs37389525619:42,392,807C/T—benign
rs212337596019:42,392,811C/T—likely benign
rs4130384919:42,392,819C/T—likely benign
rs139332997919:42,392,834G/C—uncertain significance
rs251376126219:42,392,841A/G—uncertain significance
rs19974429519:42,392,843C/A—uncertain significance
rs212337645619:42,392,855C/A—uncertain significance
rs78203339119:42,392,870G/A—likely benign
rs78211066819:42,392,871C/T—uncertain significance
rs36772073719:42,392,872G/A—uncertain significance
rs78181581119:42,392,873G/A—likely benign
rs78234351119:42,392,875G/A—uncertain significance
rs212337669919:42,392,876C/T—likely benign
rs37196126019:42,392,885C/T—likely benign
rs20095400919:42,392,907G/A—uncertain significance
rs207433386719:42,392,918G/A—likely benign
rs53508356219:42,392,927A/G—likely benign
rs207433403719:42,392,929G/C—uncertain significance
rs14609706519:42,392,931C/A—uncertain significance
rs125878871319:42,392,932C/A—uncertain significance
rs20138307219:42,392,933C/T—likely benign
rs20082449919:42,392,942G/A—uncertain significance
rs207433438419:42,392,943G/A—likely benign
rs78229506019:42,392,945A/C—likely benign
rs207433454519:42,392,951G/C—likely benign
rs19962962819:42,392,952G/T—likely benign
rs78233529819:42,396,083G/A—likely benign
rs136236775619:42,396,087C/G—likely benign
rs251378058319:42,396,089C/T—likely benign
rs78261401419:42,396,113C/T—likely benign
rs251378101719:42,396,136C/T—uncertain significance
rs92740058519:42,396,157T/C—uncertain significance
rs20130564619:42,396,191A/G—likely benign
rs251378163719:42,396,207C/A—likely benign
rs78219834019:42,396,391C/T—likely benign
rs78211143919:42,396,402G/A—uncertain significance
rs207439020419:42,396,406T/A—uncertain significance
rs78279173919:42,396,407C/G—likely benign
rs13989749419:42,396,409G/A—uncertain significance
rs78269574519:42,396,415C/T—uncertain significance
rs20188069619:42,396,416G/A—likely benign
rs125161204919:42,396,427A/G—uncertain significance
rs78264567619:42,396,428C/T—likely benign
rs37177103519:42,396,432G/A—uncertain significance
rs96774648719:42,396,443T/C—uncertain significance
rs78261143619:42,396,452G/A—likely benign
rs78222587219:42,396,455G/A—likely benign
rs37680985819:42,396,461G/A—likely benign
rs14944750019:42,396,584A/G—benign
rs207439534519:42,396,662G/A—likely benign
rs78180713019:42,396,664G/A—likely benign
rs207439559319:42,396,670G/A—likely benign
rs36982680619:42,396,676C/T—uncertain significance
rs86896008619:42,396,677G/A—uncertain significance
rs78226367119:42,396,678C/T—likely benign
rs251378663719:42,396,694A/T—uncertain significance
rs55466851019:42,396,699C/G—likely benign

Showing 100 of 613 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.