ARHGEF40

Rho guanine nucleotide exchange factor 40

Summary

This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]

Known Variants104 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1288122114:21,532,312C/Tintron variant—
rs139668142614:21,541,211A/G—uncertain significance
rs77153875614:21,542,265C/T—uncertain significance
rs128286370914:21,542,289G/C—likely benign
rs37541939914:21,542,302A/G—likely benign
rs89705535714:21,542,370C/T—uncertain significance
rs77038207914:21,542,425C/T—uncertain significance
rs75100693714:21,542,475C/T—uncertain significance
rs128168686014:21,542,493C/A—uncertain significance
rs11477348414:21,542,551C/T—uncertain significance
rs75789368314:21,542,635C/T—uncertain significance
rs76869273914:21,542,709C/T—uncertain significance
rs77098744614:21,542,734G/A—uncertain significance
rs124347214:21,542,753G/A—benign
rs1288926714:21,542,766G/A—benign
rs76948340214:21,542,781C/T—uncertain significance
rs115924473614:21,542,784G/A—uncertain significance
rs37266075014:21,542,808G/A—uncertain significance
rs124726822014:21,543,004C/T—uncertain significance
rs20201700414:21,543,007G/A—uncertain significance
rs75387297214:21,543,066C/G—uncertain significance
rs11519255414:21,543,093C/T—benign
rs75269382414:21,543,226A/G—uncertain significance
rs37477396314:21,543,246G/A—likely benign
rs188729776414:21,543,274G/A—uncertain significance
rs75087659114:21,543,509G/A—uncertain significance
rs14231354214:21,543,511C/T—uncertain significance
rs6173962714:21,543,514C/T—benign
rs15080859214:21,543,598G/T—uncertain significance
rs14365791414:21,543,656C/T—uncertain significance
rs74835692614:21,543,849C/T—uncertain significance
rs14457294014:21,543,879G/A—likely benign
rs76597446414:21,543,908C/A—uncertain significance
rs36920495614:21,544,722G/T—uncertain significance
rs75909509214:21,544,750G/A—uncertain significance
rs123130377714:21,544,770G/C—uncertain significance
rs76018608814:21,544,782A/T—likely benign
rs250266996914:21,544,954A/G—uncertain significance
rs76822262114:21,545,017C/A—uncertain significance
rs20215578014:21,546,355G/A—uncertain significance
rs75437098714:21,546,364A/G—likely benign
rs121206030814:21,546,551A/G—uncertain significance
rs13821787214:21,547,088G/T—uncertain significance
rs120543613014:21,547,100G/C—uncertain significance
rs14358619714:21,547,156G/A—uncertain significance
rs13887561814:21,548,864T/C—uncertain significance
rs6173498114:21,548,913G/A—likely benign
rs52774437914:21,548,919G/A—uncertain significance
rs75809255214:21,549,050C/T—uncertain significance
rs14437048614:21,549,051G/C—uncertain significance
rs75426198014:21,549,122C/G—uncertain significance
rs77895659114:21,549,699G/A—uncertain significance
rs36971772314:21,549,743C/G—uncertain significance
rs90360098014:21,549,794C/T—uncertain significance
rs140037230614:21,549,795G/A—uncertain significance
rs76629381814:21,549,858G/A—uncertain significance
rs20158427814:21,549,929C/T—uncertain significance
rs188792533714:21,549,938G/C—uncertain significance
rs74733139014:21,549,960C/G—uncertain significance
rs37546324914:21,549,975G/A—likely benign
rs77528574314:21,549,986C/A—uncertain significance
rs75094337814:21,550,019C/T—uncertain significance
rs75055214514:21,550,140G/A—uncertain significance
rs134817918414:21,550,191G/A—uncertain significance
rs37362319714:21,550,229G/A—uncertain significance
rs156653437114:21,550,247A/G—uncertain significance
rs76650444114:21,550,253C/T—uncertain significance
rs20107055114:21,550,263G/A—uncertain significance
rs94920916314:21,550,272G/A—uncertain significance
rs14351870414:21,550,410C/G—uncertain significance
rs250270896114:21,550,470C/T—uncertain significance
rs6174632914:21,550,499G/A—benign
rs77768618514:21,550,509C/T—uncertain significance
rs77610566014:21,550,540G/A—uncertain significance
rs77781108914:21,550,579G/A—uncertain significance
rs77224333514:21,550,611C/T—uncertain significance
rs13881073814:21,552,001T/C—likely benign
rs75760173214:21,552,025G/A—uncertain significance
rs37697396614:21,552,166G/A—uncertain significance
rs77677658814:21,552,193C/T—uncertain significance
rs75095905114:21,552,199G/A—uncertain significance
rs100834626614:21,552,913T/C—likely benign
rs250272459214:21,552,941G/C—uncertain significance
rs77837279614:21,552,963A/G—uncertain significance
rs37439917914:21,553,045G/C—uncertain significance
rs14606151814:21,553,056A/G—uncertain significance
rs75740936414:21,553,857A/G—uncertain significance
rs77289746714:21,553,878G/A—uncertain significance
rs75745189114:21,553,918G/A—uncertain significance
rs126139496714:21,553,939C/T—uncertain significance
rs20143567214:21,555,169T/C—uncertain significance
rs250273844314:21,555,217T/C—uncertain significance
rs14755958514:21,555,485G/A—uncertain significance
rs14025972414:21,555,526G/A—uncertain significance
rs57253308714:21,555,535C/G—uncertain significance
rs74775023914:21,555,542G/T—uncertain significance
rs77416735414:21,555,551C/T—uncertain significance
rs7588272614:21,555,574C/G—uncertain significance
rs20089324014:21,556,129C/T—uncertain significance
rs76996147014:21,556,154A/T—uncertain significance

Showing 100 of 104 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.