ARHGEF18

Rho/Rac guanine nucleotide exchange factor 18

Summary

Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]

Known Variants846 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14865640919:7,420,158C/Tregulatory region variant—
rs660310919:7,424,528A/Tintron variant—
rs14025021319:7,437,716C/T—uncertain significance
rs19027690719:7,441,637G/C—benign
rs117324345719:7,443,321G/A—uncertain significance
rs1042235719:7,445,562G/T——
rs7299263619:7,448,058C/T—likely benign
rs480458619:7,468,489T/Gintron variant—
rs3427137819:7,477,409C/Aintron variant—
rs3508683919:7,491,215A/G——
rs197451844719:7,504,839G/T—uncertain significance
rs251243610419:7,504,870C/A—uncertain significance
rs19978585319:7,504,871T/A—benign
rs251243614219:7,504,877C/A—likely benign
rs93509194219:7,504,878A/G—uncertain significance
rs214576974119:7,504,880T/C—likely benign
rs129120821519:7,504,897C/T—uncertain significance
rs77277482219:7,504,904G/C—likely benign
rs130924274319:7,504,911A/G—uncertain significance
rs105081915519:7,504,921C/T—uncertain significance
rs197452443019:7,504,925G/C—likely benign
rs76905684019:7,504,932A/T—pathogenic
rs144478474219:7,504,935A/C—uncertain significance
rs77696404319:7,504,945C/T—uncertain significance
rs55133497519:7,504,949G/C—uncertain significance
rs53148519819:7,504,957C/G—conflicting classifications of pathogenicity
rs75054934519:7,504,958C/A—likely benign
rs37523959319:7,504,959G/T—uncertain significance
rs36814105419:7,504,963C/T—conflicting classifications of pathogenicity
rs133348742519:7,504,964G/A—likely benign
rs104907231619:7,504,965G/C—uncertain significance
rs214577072819:7,504,967T/C—likely benign
rs251243705019:7,504,974G/T—uncertain significance
rs95577698119:7,504,979G/A—conflicting classifications of pathogenicity
rs148178720819:7,504,980G/C—uncertain significance
rs1042250319:7,504,982C/T—benign
rs141755469019:7,504,987A/G—uncertain significance
rs176385658919:7,504,995A/C—uncertain significance
rs139574226719:7,504,997T/C—likely benign
rs54699379919:7,504,999C/T—uncertain significance
rs7472843819:7,505,000G/A—benign
rs135606734319:7,505,005C/T—uncertain significance
rs101209100419:7,505,015G/A—likely benign
rs129974927519:7,505,033C/T—likely benign
rs92683557119:7,505,035C/G—uncertain significance
rs37557544819:7,505,036C/T—likely benign
rs56564753819:7,505,037G/A—uncertain significance
rs214577148919:7,505,045C/G—likely benign
rs197453869319:7,505,048G/T—uncertain significance
rs75927940819:7,505,060C/T—likely benign
rs74757145019:7,505,069C/G—uncertain significance
rs197454101019:7,505,078A/C—uncertain significance
rs77705568819:7,505,087G/C—uncertain significance
rs74906938619:7,505,090C/T—likely benign
rs95637848519:7,505,091G/A—uncertain significance
rs1187874219:7,505,099G/A—benign
rs136475005719:7,505,103A/G—uncertain significance
rs77000013819:7,505,105C/T—likely benign
rs197454374619:7,505,106G/C—uncertain significance
rs1715956319:7,505,111G/A—benign
rs214577202819:7,505,122A/C—uncertain significance
rs214577208019:7,505,126C/A—likely benign
rs251243820019:7,505,131C/T—uncertain significance
rs76661730819:7,505,132T/G—likely benign
rs121816585819:7,505,139C/T—uncertain significance
rs75167816019:7,505,141G/T—likely benign
rs148618013819:7,505,142C/A—uncertain significance
rs20064332619:7,505,146A/C—uncertain significance
rs20159884419:7,505,147G/T—uncertain significance
rs214577222519:7,505,150G/A—likely benign
rs57672979119:7,505,154C/T—uncertain significance
rs36889615319:7,505,155G/A—uncertain significance
rs116072434419:7,505,156G/A—likely benign
rs54578009419:7,505,158G/T—uncertain significance
rs214577234019:7,505,162C/G—uncertain significance
rs19956723719:7,505,163C/T—conflicting classifications of pathogenicity
rs103020123419:7,505,166G/A—uncertain significance
rs75442706219:7,505,167C/T—uncertain significance
rs78173191319:7,505,168C/T—likely benign
rs37585262519:7,505,169G/A—uncertain significance
rs77023195419:7,505,178C/T—uncertain significance
rs74958273419:7,505,180C/T—likely benign
rs55468987919:7,505,185C/T—uncertain significance
rs77666384019:7,505,186G/A—likely benign
rs197455476019:7,505,189C/G—likely benign
rs76162581419:7,505,190C/T—uncertain significance
rs56850890219:7,505,192C/T—likely benign
rs76412743119:7,505,195T/C—likely benign
rs75812182419:7,505,206A/G—uncertain significance
rs131391983919:7,505,211G/T—uncertain significance
rs95965039519:7,505,219C/T—likely benign
rs214577285719:7,505,222T/C—likely benign
rs75116072019:7,505,234G/A—likely benign
rs117940856619:7,505,236T/C—uncertain significance
rs143166654919:7,505,258C/T—likely benign
rs75656836319:7,505,262C/T—likely benign
rs77826958319:7,505,264G/A—likely benign
rs74967979419:7,505,265T/C—uncertain significance
rs37244559719:7,505,267C/T—likely benign
rs20176441719:7,505,268G/T—uncertain significance

Showing 100 of 846 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.