CYFIP1

cytoplasmic FMR1 interacting protein 1

Summary

This gene encodes a protein that regulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE regulatory complex (WRC), which promotes actin polymerization. This protein also interacts with the synaptic functional regulator FMR1 protein and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion including this gene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this gene has been observed in various human cancers and the encoded protein may inhibit tumor invasion. [provided by RefSeq, Mar 2022]

Known Variants109 total

rsidPosition (GRCh37)AllelesClassClinVar
rs53572080715:22,892,269G/A—likely benign
rs76810687115:22,925,852G/A—uncertain significance
rs122102025115:22,925,863C/A—likely benign
rs11478988115:22,925,869C/T—benign
rs146860871615:22,926,011A/G—likely benign
rs124726276315:22,928,166T/C—uncertain significance
rs74603041315:22,929,730G/A—uncertain significance
rs147136046515:22,929,744G/T—uncertain significance
rs76600576115:22,929,783G/A—uncertain significance
rs75336478815:22,929,798C/T—benign
rs75139503915:22,933,649A/G—uncertain significance
rs77867962115:22,933,871C/G—uncertain significance
rs37663308615:22,935,909A/G—uncertain significance
rs214223971415:22,939,184G/A—uncertain significance
rs14262279315:22,939,186G/A—likely benign
rs75878578115:22,939,237C/G—likely benign
rs78131994215:22,939,249C/T—likely benign
rs14733958115:22,940,721T/C—benign
rs13904586215:22,940,776G/A—benign
rs76794959215:22,940,785C/G—uncertain significance
rs56976874715:22,940,826C/T—uncertain significance
rs250753344115:22,945,055G/A—uncertain significance
rs76414216415:22,945,056G/A—uncertain significance
rs14711598515:22,945,082G/A—benign
rs126129541315:22,945,083C/T—uncertain significance
rs77980103115:22,945,155T/C—uncertain significance
rs13858958815:22,945,171C/G—benign
rs14563244915:22,947,014C/G—likely benign
rs74839020415:22,947,021G/A—uncertain significance
rs122244773215:22,947,075G/T—uncertain significance
rs159561868015:22,947,083G/A—likely benign
rs36849272715:22,954,233G/A—benign
rs250740568415:22,954,274C/G—uncertain significance
rs76021523315:22,954,288G/A—uncertain significance
rs19970673915:22,955,179C/T—uncertain significance
rs159559767815:22,955,181T/C—likely benign
rs77982763815:22,955,219A/T—uncertain significance
rs77550128115:22,955,220C/A—uncertain significance
rs55973061315:22,955,256C/T—likely benign
rs14727024315:22,956,131G/A—likely benign
rs37297879015:22,956,229C/T—likely benign
rs128609844515:22,956,561T/C—uncertain significance
rs77588543415:22,956,567T/C—uncertain significance
rs75676740715:22,958,213C/T—uncertain significance
rs77236281615:22,958,333C/T—uncertain significance
rs13823434515:22,958,334G/C—benign
rs137448322215:22,960,830G/A—uncertain significance
rs250728369615:22,962,444C/T—uncertain significance
rs74878736915:22,962,456C/T—uncertain significance
rs76546124315:22,962,490C/T—uncertain significance
rs14110621115:22,962,518C/T—benign
rs14585519715:22,963,760C/T—benign
rs75362417515:22,963,798G/A—uncertain significance
rs134566928615:22,963,800G/A—uncertain significance
rs14272798015:22,963,869A/G—benign
rs19959651915:22,969,191G/A—uncertain significance
rs102675249715:22,969,193A/G—uncertain significance
rs20208121615:22,969,217T/G—uncertain significance
rs76286702815:22,969,224C/T—uncertain significance
rs56275008215:22,969,225G/A—likely benign
rs717063715:22,969,232G/Amissense variant—
rs1713719015:22,969,233G/A—conflicting classifications of pathogenicity
rs74682233815:22,969,241G/A—uncertain significance
rs7400307515:22,969,282C/T—benign
rs76159050915:22,969,300C/T—likely benign
rs55040857215:22,969,349G/A—uncertain significance
rs20114707515:22,969,353C/G—uncertain significance
rs100915315:22,976,911G/C——
rs77472832415:22,980,161T/C—uncertain significance
rs13963579915:22,990,087G/A—likely benign
rs141722880515:22,990,123C/G—uncertain significance
rs76533897115:22,990,152G/C—uncertain significance
rs76305355415:22,990,159G/A—uncertain significance
rs77320415915:22,991,137A/T—uncertain significance
rs14181598815:22,991,206C/T—likely benign
rs156692051815:22,993,045C/T—uncertain significance
rs77114622615:22,993,085C/T—uncertain significance
rs76125873415:22,993,120G/A—uncertain significance
rs14904295215:22,993,121C/T—benign
rs75188779615:22,993,149G/C—uncertain significance
rs18907069115:22,997,793C/G—likely benign
rs11404264815:22,997,811G/A—likely benign
rs13806352315:22,997,828C/T—uncertain significance
rs20219490115:22,997,853G/T—benign
rs37231410315:22,998,443C/T—likely benign
rs14679182115:22,998,470C/T—likely benign
rs15065337315:22,998,473C/T—likely benign
rs37298518015:22,998,475C/T—uncertain significance
rs53425405215:22,998,524G/A—likely benign
rs250655364615:22,999,348A/G—uncertain significance
rs14884804715:22,999,403T/C—uncertain significance
rs76883488915:22,999,423C/T—uncertain significance
rs14465404615:22,999,430G/T—uncertain significance
rs19975666915:22,999,458C/T—likely benign
rs20170524615:22,999,464T/C—likely benign
rs78023960515:22,999,483A/G—uncertain significance
rs14021586815:22,999,494C/T—likely benign
rs74820352115:22,999,495G/A—uncertain significance
rs142274791715:22,999,498T/C—uncertain significance
rs77090906915:22,999,528A/T—uncertain significance

Showing 100 of 109 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.