ASCC1

activating signal cointegrator 1 complex subunit 1

Summary

This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Known Variants161 total

rsidPosition (GRCh37)AllelesClassClinVar
rs331210:73,856,984G/A—benign
rs249216973710:73,857,114C/G—uncertain significance
rs36946716710:73,857,121C/T—uncertain significance
rs14613863910:73,857,122G/A—likely benign
rs14400177910:73,857,143G/A—benign
rs249217057310:73,857,145T/C—uncertain significance
rs130071823010:73,857,149C/T—likely benign
rs74557617210:73,857,156G/C—uncertain significance
rs14641313710:73,857,162T/C—uncertain significance
rs13997687310:73,857,166T/C—uncertain significance
rs20009975510:73,857,186C/A—uncertain significance
rs14219489510:73,857,192T/C—uncertain significance
rs99605521210:73,857,206C/A—uncertain significance
rs213184764610:73,857,216G/A—likely benign
rs166815410:73,862,032C/T—benign
rs76980582910:73,862,123G/A—likely benign
rs102298375210:73,862,150G/C—likely benign
rs92891949710:73,862,174T/C—likely benign
rs56927877910:73,862,182T/C—likely benign
rs184188142410:73,862,186G/C—likely benign
rs140332765410:73,862,601C/T—likely benign
rs132514282210:73,862,602G/A—likely benign
rs90885235310:73,862,624T/A—likely benign
rs158915588010:73,862,626G/A—likely benign
rs94161951010:73,862,630G/A—likely benign
rs57569213610:73,862,633T/G—likely benign
rs123301613910:73,862,634G/C—pathogenic
rs97492802210:73,862,635A/C—likely benign
rs77097290010:73,862,637G/A—likely benign
rs132068516910:73,862,639A/G—likely benign
rs91550452110:73,862,660G/A—likely benign
rs105115671710:73,862,669G/A—likely benign
rs54309269010:73,862,681G/A—benign
rs56200748610:73,862,686T/C—likely benign
rs120048844710:73,862,690A/G—likely benign
rs249230858610:73,862,713A/G—likely benign
rs100253968810:73,862,742C/T—likely benign
rs709080010:73,865,731T/Cintron variant—
rs1181392110:73,882,477G/Aintron variant—
rs19993969810:73,887,823C/T—likely benign
rs184510170810:73,887,840C/G—uncertain significance
rs138909893410:73,887,854G/A—pathogenic
rs20087723210:73,887,855G/T—likely benign
rs123455248110:73,887,864T/C—likely benign
rs123287829210:73,887,879G/A—uncertain significance
rs14220806410:73,887,886T/C—benign
rs92723995210:73,887,892C/A—uncertain significance
rs20164601110:73,887,893C/T—uncertain significance
rs7903246910:73,887,894T/A—benign
rs76572176810:73,887,897C/T—likely benign
rs77493919210:73,887,898G/A—uncertain significance
rs138222249610:73,887,900T/C—likely benign
rs76709446810:73,887,926C/G—likely pathogenic
rs76729413210:73,887,943A/G—likely benign
rs77391654210:73,892,805G/C—likely benign
rs57484526710:73,892,807G/C—likely benign
rs76384579110:73,892,814C/T—pathogenic
rs14637005110:73,892,817T/Cmissense variantpathogenic
rs20072192210:73,892,846A/G—likely benign
rs75513495210:73,892,857G/A—uncertain significance
rs184579191510:73,892,873C/T—uncertain significance
rs78152830110:73,892,874C/T—pathogenic
rs77805429610:73,892,902G/A—pathogenic
rs37145093410:73,892,908G/A—uncertain significance
rs11356922710:73,892,939C/A—likely benign
rs14199671710:73,892,943G/C—likely benign
rs75351154810:73,892,945G/T—likely benign
rs76839842210:73,892,949T/C—uncertain significance
rs37738869210:73,892,958A/G—likely benign
rs14128523110:73,911,953G/Tregulatory region variant—
rs139982623610:73,912,611C/T—likely benign
rs77493070910:73,912,656G/C—likely benign
rs13824592010:73,912,659G/T—pathogenic
rs76516786610:73,912,678C/A—uncertain significance
rs75280591310:73,912,726G/A—uncertain significance
rs100841286510:73,912,743A/G—likely benign
rs14734834910:73,912,746A/G—conflicting classifications of pathogenicity
rs708664710:73,921,162G/A—benign
rs707053810:73,921,195T/C—benign
rs74759552310:73,921,295C/T—pathogenic
rs147509076610:73,921,307C/T—likely benign
rs101153003110:73,921,337C/G—uncertain significance
rs76950193010:73,921,339G/A—pathogenic
rs14341630210:73,921,351C/G—likely benign
rs249348416410:73,921,356C/G—uncertain significance
rs77079201410:73,921,378T/C—uncertain significance
rs36847026710:73,921,420C/G—uncertain significance
rs97244908410:73,921,437T/C—likely benign
rs1226948610:73,921,595A/G—benign
rs13937089610:73,941,732C/G—likely benign
rs5690215310:73,956,553C/T—benign
rs133733902210:73,956,557G/A—likely benign
rs146804693310:73,956,581C/T—likely benign
rs77883538210:73,956,582G/A—uncertain significance
rs141772970510:73,956,590T/C—likely benign
rs77198742210:73,956,591T/C—uncertain significance
rs76989956010:73,956,614T/C—likely benign
rs93701334510:73,956,619G/A—pathogenic
rs13803071010:73,956,662G/A—likely benign
rs75565611310:73,956,665C/A—uncertain significance

Showing 100 of 161 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.