CAV1

caveolin 1

Summary

The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]

Known Variants119 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3774521787:116,164,658G/T—likely benign
rs69572127:116,164,892G/A—likely benign
rs9324649337:116,165,023T/C—likely benign
rs17935258297:116,165,125G/A—likely benign
rs21159213057:116,165,128C/A—likely benign
rs24851545887:116,165,141T/G—uncertain significance
rs3701059727:116,165,144G/T—conflicting classifications of pathogenicity
rs21159214517:116,165,146G/C—uncertain significance
rs1995780587:116,165,159G/A—likely benign
rs356975407:116,165,160G/T—benign
rs2017677387:116,165,161G/C—likely benign
rs1480665547:116,165,162G/A—likely benign
rs1996483647:116,165,165G/A—likely benign
rs345928777:116,165,166C/T—benign
rs351824567:116,165,174C/T—likely benign
rs454987027:116,165,233T/C—benign
rs19976237:116,165,360A/Cregulatory region variantbenign
rs27421257:116,165,463T/C—benign
rs1501497747:116,166,074G/A—benign
rs560143477:116,166,400T/C—benign
rs7609347797:116,166,591A/G—uncertain significance
rs9267196657:116,166,593C/G—likely benign
rs1500515477:116,166,602C/G—conflicting classifications of pathogenicity
rs24851578177:116,166,603C/T—uncertain significance
rs3742710137:116,166,605G/A—likely benign
rs17935662377:116,166,606G/A—uncertain significance
rs3680646337:116,166,608A/G—likely benign
rs12191244597:116,166,609C/T—uncertain significance
rs7531841737:116,166,620C/A—likely benign
rs8791071717:116,166,658G/A—likely benign
rs1214345017:116,166,660G/Tstop gainedpathogenic
rs2012610297:116,166,677C/T—likely benign
rs100297:116,166,704C/T—likely benign
rs17935699167:116,166,719A/C—uncertain significance
rs10320132637:116,166,722C/T—likely benign
rs15847666817:116,166,725C/G—likely benign
rs17935703437:116,166,727A/G—uncertain significance
rs3675952687:116,166,731T/C—likely benign
rs13597812087:116,166,735G/T—uncertain significance
rs21159320807:116,166,737G/A—likely benign
rs7712625097:116,166,739T/G—uncertain significance
rs7494347387:116,166,740C/T—likely benign
rs15847667187:116,166,750C/T—likely benign
rs24851582087:116,166,751A/G—likely benign
rs9261987:116,167,208C/Tregulatory region variant—
rs37795127:116,171,063T/C——
rs64665837:116,173,064G/Aregulatory region variant—
rs38079877:116,179,834G/Aregulatory region variant—
rs47307517:116,180,850C/Aregulatory region variant—
rs9591737:116,182,054C/Tdownstream gene variant—
rs102705697:116,182,782C/Tcoding sequence variant—
rs38079897:116,186,241A/Gregulatory region variant—
rs126720387:116,187,106G/Aregulatory region variant—
rs38019957:116,190,597C/Tintron variant—
rs117738457:116,191,301C/Aintron variant—
rs37577337:116,193,729T/Aupstream gene variant—
rs78043727:116,194,228T/Aupstream gene variant—
rs38079927:116,197,245G/Aregulatory region variant—
rs38079947:116,197,579G/Aintron variant—
rs1813119387:116,198,694C/A—likely benign
rs19975727:116,198,828G/A—benign
rs794934667:116,198,848A/G—likely benign
rs17943459767:116,198,994T/C—likely benign
rs7525719407:116,199,006T/G—uncertain significance
rs7583491297:116,199,015G/A—uncertain significance
rs24852185117:116,199,023A/G—likely benign
rs2017389257:116,199,026A/G—likely benign
rs14316186827:116,199,033G/A—uncertain significance
rs3760045657:116,199,040A/G—uncertain significance
rs3698843337:116,199,042A/G—uncertain significance
rs352420777:116,199,050C/T—likely benign
rs2008113307:116,199,061A/G—uncertain significance
rs7691406697:116,199,062G/A—likely benign
rs24852187637:116,199,065C/T—likely benign
rs24852187727:116,199,067G/A—uncertain significance
rs24852188167:116,199,074C/T—likely benign
rs3724164487:116,199,088C/T—uncertain significance
rs2008942087:116,199,089G/A—likely benign
rs2000526617:116,199,106G/A—uncertain significance
rs24852189847:116,199,122C/T—likely benign
rs14379411347:116,199,130T/A—uncertain significance
rs12032652057:116,199,133C/T—uncertain significance
rs7590747417:116,199,134G/A—likely benign
rs21161160727:116,199,145T/C—uncertain significance
rs21161161017:116,199,149G/C—uncertain significance
rs1416422347:116,199,152C/T—likely benign
rs7583325847:116,199,156T/C—uncertain significance
rs7515942407:116,199,158C/T—likely benign
rs2013025457:116,199,161C/T—likely benign
rs3692621277:116,199,162G/A—conflicting classifications of pathogenicity
rs24852192897:116,199,191A/C—likely benign
rs7486080687:116,199,198C/G—uncertain significance
rs8792555787:116,199,204——pathogenic
rs24852194697:116,199,207A/G—uncertain significance
rs7759409367:116,199,211G/A—uncertain significance
rs12111837817:116,199,212C/T—likely benign
rs24852195377:116,199,222G/A—uncertain significance
rs7970451767:116,199,228C/Tstop gainedpathogenic
rs11844447047:116,199,230G/A—likely benign
rs7628180407:116,199,241G/A—uncertain significance

Showing 100 of 119 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.