CAVIN1

caveolae associated protein 1

Summary

This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]

Known Variants121 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7468501517:40,554,494C/T—likely benign
rs11399037917:40,554,590C/A—uncertain significance
rs11588968417:40,554,657A/G—likely benign
rs88605294617:40,554,715T/G—uncertain significance
rs126646522617:40,554,750A/G—uncertain significance
rs1289217:40,554,793G/A—likely benign
rs124007491517:40,554,810G/C—uncertain significance
rs925217:40,554,849A/G—likely benign
rs1154669917:40,554,917G/C—likely benign
rs721229917:40,554,956A/G—benign
rs721071317:40,555,001C/G—benign
rs479658217:40,555,114C/A—benign
rs78174064317:40,555,156G/A—uncertain significance
rs11759633117:40,555,197C/T—likely benign
rs37289954017:40,555,226C/T—uncertain significance
rs479658317:40,555,259C/G—likely benign
rs208542353317:40,555,392C/A—uncertain significance
rs88605294717:40,555,473C/T—uncertain significance
rs55037209817:40,555,491C/T—uncertain significance
rs208542417017:40,555,504A/C—uncertain significance
rs88605294817:40,555,520A/G—uncertain significance
rs77627544317:40,555,595G/A—uncertain significance
rs75937964117:40,555,706G/A—uncertain significance
rs3572576617:40,555,707C/T—benign
rs112942217:40,555,799C/T—benign
rs18187669017:40,555,866T/C—likely benign
rs641692217:40,555,890T/C—benign
rs55871863617:40,555,895G/A—uncertain significance
rs70963117:40,555,939A/T—benign
rs7968334517:40,556,002A/T—likely benign
rs86738467817:40,556,008T/G—uncertain significance
rs53400297317:40,556,183C/T—uncertain significance
rs11186039217:40,556,243A/G—benign
rs641692317:40,556,247G/A—benign
rs7515549317:40,556,342G/A—benign
rs722052717:40,556,358G/T—likely benign
rs14389571917:40,556,510G/C—uncertain significance
rs720728517:40,556,515T/C—benign
rs14429884317:40,556,547T/A—uncertain significance
rs14824149117:40,556,562G/C—uncertain significance
rs53260403317:40,556,601G/A—likely benign
rs77579556817:40,556,674G/C—uncertain significance
rs20040912217:40,556,695C/T—conflicting classifications of pathogenicity
rs214547081417:40,556,740C/G—uncertain significance
rs208543145717:40,556,753G/C—uncertain significance
rs20194518417:40,556,776C/T—uncertain significance
rs122112101317:40,556,791G/A—uncertain significance
rs250986282617:40,556,806C/G—uncertain significance
rs37431728117:40,556,825G/A—uncertain significance
rs208543235117:40,556,829T/G—uncertain significance
rs86430960017:40,556,878C/T—uncertain significance
rs75633897217:40,556,935C/A—uncertain significance
rs11233257317:40,556,951C/G—likely benign
rs14679928617:40,556,955T/C—conflicting classifications of pathogenicity
rs208543354917:40,556,961A/G—uncertain significance
rs88604301917:40,556,969G/T—uncertain significance
rs75437680117:40,556,973G/A—uncertain significance
rs13961897617:40,556,981T/C—likely benign
rs137077806317:40,557,003G/A—uncertain significance
rs14659634917:40,557,019G/C—uncertain significance
rs36782633917:40,557,031G/A—uncertain significance
rs3564829717:40,557,035C/T—likely benign
rs77259845117:40,557,042G/C—uncertain significance
rs77635587417:40,557,063T/C—uncertain significance
rs123907781517:40,557,135G/C—uncertain significance
rs15025861317:40,557,149C/G—likely benign
rs57694942717:40,557,161C/T—likely benign
rs208543553517:40,557,175C/T—uncertain significance
rs74733922817:40,557,199G/A—uncertain significance
rs14901710617:40,557,231G/A—uncertain significance
rs55952715017:40,557,302G/C—uncertain significance
rs19972008917:40,557,328C/A—likely pathogenic
rs14351130617:40,557,338C/T—conflicting classifications of pathogenicity
rs14589085317:40,557,343G/A—uncertain significance
rs20095437517:40,557,364G/C—uncertain significance
rs250986344517:40,557,366G/T—likely pathogenic
rs76809052117:40,557,415A/G—likely benign
rs807483217:40,557,662C/T—benign
rs1295024617:40,557,691T/A—benign
rs5638757617:40,557,693T/G—benign
rs96398617:40,561,579G/Cregulatory region variant—
rs11155028317:40,563,106G/Aintron variant—
rs722271217:40,564,784T/Cintron variant—
rs1294890917:40,570,602A/Cintron variant—
rs1187180117:40,570,772A/G——
rs3461064317:40,574,388A/C—benign
rs722273917:40,574,520G/C—benign
rs86650492817:40,574,644C/A—pathogenic
rs208555908417:40,574,648G/A—conflicting classifications of pathogenicity
rs14823962517:40,574,654C/G—conflicting classifications of pathogenicity
rs141435164117:40,574,655A/T—uncertain significance
rs77451492417:40,574,657G/T—likely benign
rs146440522317:40,574,711G/C—uncertain significance
rs77232328717:40,574,742C/T—uncertain significance
rs14654767817:40,574,760A/T—conflicting classifications of pathogenicity
rs75103406017:40,574,773G/A—uncertain significance
rs135814386417:40,574,854T/G—uncertain significance
rs250987660217:40,574,857G/A—pathogenic
rs133009095217:40,574,860C/T—uncertain significance
rs36947039717:40,574,867C/G—uncertain significance

Showing 100 of 121 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.