MCF2L

MCF.2 cell line derived transforming sequence like

Summary

This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Known Variants116 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11158733713:113,553,458G/Aintron variant—
rs7606055813:113,573,902C/T——
rs1286122413:113,576,388A/Gintron variant—
rs490757113:113,618,496T/C——
rs77789505913:113,623,697A/C—likely benign
rs250270155313:113,623,739G/C—uncertain significance
rs18384843313:113,634,010C/A—likely benign
rs56021366313:113,647,560C/A——
rs490747913:113,659,108G/C——
rs136027453313:113,666,477G/A—likely benign
rs14321210413:113,666,574G/Adownstream gene variant—
rs18138034913:113,669,097A/T—uncertain significance
rs14449703613:113,669,142C/T—uncertain significance
rs14946804213:113,669,159C/T—likely benign
rs18223698213:113,678,143C/Aregulatory region variant—
rs75246362813:113,678,964G/A—uncertain significance
rs7626137913:113,682,970A/Cintron variant—
rs1184287413:113,694,509A/Gintron variant—
rs36943436313:113,699,595G/A—uncertain significance
rs20206789313:113,699,665T/A—uncertain significance
rs13907621913:113,699,682G/C—benign
rs76344604413:113,714,934G/A—uncertain significance
rs37529589913:113,714,940G/A—uncertain significance
rs76878171413:113,714,953C/T—uncertain significance
rs77009955813:113,714,956G/A—uncertain significance
rs14937277113:113,714,985G/A—uncertain significance
rs55998578413:113,715,008C/A—uncertain significance
rs124985454413:113,718,714C/T—uncertain significance
rs14878730013:113,718,715G/A—conflicting classifications of pathogenicity
rs37653369513:113,718,733C/T—uncertain significance
rs75970729313:113,719,255C/G—uncertain significance
rs14079921513:113,719,312C/T—likely benign
rs36885801913:113,719,343G/T—uncertain significance
rs37436221213:113,719,350C/G—uncertain significance
rs250204918513:113,719,359C/T—uncertain significance
rs37740896413:113,719,396G/A—likely benign
rs117124630013:113,720,364A/G—uncertain significance
rs14396586513:113,720,477G/A—likely benign
rs20077692113:113,724,472G/T—uncertain significance
rs77272216413:113,724,482C/T—uncertain significance
rs1016225713:113,728,811C/T—benign
rs6196639713:113,728,887T/G—benign
rs14635690013:113,729,243G/Aintron variant—
rs76118468413:113,729,313T/G—uncertain significance
rs127839015813:113,729,316C/T—uncertain significance
rs76907102913:113,729,317C/G—likely benign
rs14611295413:113,729,318G/A—uncertain significance
rs20106798013:113,729,331G/A—uncertain significance
rs14984974513:113,729,347C/T—benign
rs14416160313:113,729,361T/A—uncertain significance
rs11750884013:113,729,367A/G—likely benign
rs7492666013:113,729,414C/T—benign
rs14244483913:113,729,439C/T—likely benign
rs37485510113:113,729,447G/A—uncertain significance
rs713981213:113,729,464G/T—benign
rs14561917613:113,729,489C/A—likely benign
rs13833954013:113,729,490G/A—conflicting classifications of pathogenicity
rs75174111113:113,729,502C/T—uncertain significance
rs14595680513:113,729,511G/A—benign
rs142459103213:113,730,333C/A—uncertain significance
rs250232494313:113,730,391G/A—uncertain significance
rs77219444213:113,730,397G/A—likely benign
rs11676035613:113,730,426C/G—benign
rs19999049413:113,730,445G/A—uncertain significance
rs250232741713:113,730,458A/G—uncertain significance
rs13939393413:113,730,466C/T—uncertain significance
rs103742087313:113,730,469A/C—uncertain significance
rs36917072413:113,731,368G/C—uncertain significance
rs250235786913:113,731,435C/A—uncertain significance
rs37329789713:113,731,460C/T—uncertain significance
rs250235950413:113,731,489C/T—uncertain significance
rs76417485513:113,732,689G/T—uncertain significance
rs13959623313:113,732,690C/T—likely benign
rs14503479113:113,732,713G/A—uncertain significance
rs37045159313:113,732,719C/T—uncertain significance
rs14214497813:113,732,998C/T—likely benign
rs14037841013:113,733,010G/A—likely benign
rs77127027513:113,736,747G/A—uncertain significance
rs76015816513:113,736,750G/A—uncertain significance
rs56416880113:113,736,752G/A—likely benign
rs77257865513:113,738,327G/C—uncertain significance
rs77177611713:113,739,251C/T—uncertain significance
rs15022061313:113,739,281G/A—uncertain significance
rs18637357013:113,739,390T/G—benign
rs250263058613:113,740,467G/T—uncertain significance
rs13797886213:113,740,554C/T—likely benign
rs11718952813:113,741,560C/T—likely benign
rs203473556513:113,741,706A/G—uncertain significance
rs15078667513:113,741,770C/T—likely benign
rs20153816013:113,742,087G/A—uncertain significance
rs19955161013:113,742,108G/A—likely benign
rs53308291313:113,742,652T/G—likely benign
rs76595309713:113,742,888A/G—uncertain significance
rs120278159413:113,742,889C/G—uncertain significance
rs75473525513:113,742,891G/A—uncertain significance
rs13949755613:113,742,913C/T—likely benign
rs74739506513:113,742,933C/A—uncertain significance
rs7266354713:113,744,000G/T—uncertain significance
rs74856027613:113,744,021A/G—uncertain significance
rs37672985413:113,748,854G/C—uncertain significance

Showing 100 of 116 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.