SOX6

SRY-box transcription factor 6

Summary

This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]

Known Variants225 total

rsidPosition (GRCh37)AllelesClassClinVar
rs185335643511:15,994,358G/T—uncertain significance
rs20139559111:15,994,376C/T—likely benign
rs55918045311:15,994,385A/G—benign
rs125531187611:15,994,394G/A—likely benign
rs77858515011:15,994,395C/T—uncertain significance
rs20089894111:15,994,397A/G—likely benign
rs249393766711:15,994,528T/C—uncertain significance
rs137966497011:15,994,536G/C—uncertain significance
rs132697242911:15,994,575G/C—uncertain significance
rs75714583611:15,994,618C/T—uncertain significance
rs6683047211:16,007,446A/Gintron variant—
rs14666197111:16,007,743T/C—likely benign
rs11703679111:16,007,752C/A—benign
rs75453997911:16,007,753A/G—uncertain significance
rs249397133611:16,007,763A/G—uncertain significance
rs249397134811:16,007,764C/T—likely benign
rs77814697311:16,007,789C/T—uncertain significance
rs55258521111:16,007,851C/T—likely benign
rs211981822311:16,007,856G/A—pathogenic
rs211981822911:16,007,859G/A—likely pathogenic
rs19983932211:16,007,893G/A—likely benign
rs77732819811:16,007,906C/T—uncertain significance
rs249397207611:16,007,936T/C—uncertain significance
rs3443832711:16,007,938C/T—likely benign
rs185384187411:16,007,958A/T—pathogenic
rs76889206911:16,007,975A/G—likely benign
rs19073039911:16,007,977A/G—likely benign
rs249397223311:16,007,983C/T—likely benign
rs392255911:16,008,235T/C—benign
rs75697788111:16,010,530C/G—likely benign
rs7955689911:16,010,547G/A—benign
rs211981966811:16,010,616C/G—likely pathogenic
rs185395812411:16,010,635A/G—pathogenic
rs249397879311:16,010,641C/T—likely pathogenic
rs95561901911:16,010,669G/T—uncertain significance
rs131302696211:16,010,779G/A—likely benign
rs1083254411:16,018,737A/T——
rs5800207911:16,034,398G/Aintron variant—
rs213386288411:16,036,478A/G—likely benign
rs13962345211:16,036,482A/G—likely benign
rs143715665111:16,036,491C/T—uncertain significance
rs14378268211:16,036,516G/A—likely benign
rs125323892211:16,036,557C/G—uncertain significance
rs54769358511:16,036,558C/T—likely benign
rs14832321711:16,036,586C/T—benign
rs18522580611:16,036,587G/A—conflicting classifications of pathogenicity
rs37638763311:16,036,589G/A—conflicting classifications of pathogenicity
rs99632603511:16,036,614C/A—likely benign
rs1693245511:16,040,175A/Tupstream gene variantbenign
rs14149453711:16,068,098T/C—likely benign
rs249412782511:16,068,134G/T—uncertain significance
rs122923726311:16,068,163C/T—uncertain significance
rs249412805411:16,068,164G/A—pathogenic
rs249412821411:16,068,197C/T—uncertain significance
rs20179406211:16,068,265A/T—likely benign
rs121260520511:16,071,292T/C—likely benign
rs130466727411:16,071,328C/T—uncertain significance
rs213391321811:16,071,355T/C—uncertain significance
rs249413895011:16,071,397G/A—uncertain significance
rs75637598411:16,071,414G/T—benign
rs18709451411:16,071,435G/A—likely benign
rs249413944211:16,071,484C/T—uncertain significance
rs36814328211:16,071,490A/C—uncertain significance
rs184764520111:16,071,498A/G—likely benign
rs20032584311:16,071,499C/T—likely benign
rs13844699011:16,077,289C/T—benign
rs249415527711:16,077,303C/G—uncertain significance
rs76022177411:16,077,327T/C—likely benign
rs14602232611:16,077,331T/C—benign
rs249415541711:16,077,332T/C—uncertain significance
rs101025507211:16,077,394C/T—uncertain significance
rs75934288811:16,077,395A/G—uncertain significance
rs37249299311:16,077,408G/T—uncertain significance
rs3607153311:16,077,414C/A—uncertain significance
rs249415596811:16,077,447G/A—likely pathogenic
rs14446666611:16,117,556G/A—conflicting classifications of pathogenicity
rs74690421411:16,117,560G/C—pathogenic
rs53336394911:16,117,606A/G—uncertain significance
rs37176928311:16,117,610G/A—likely benign
rs14842304511:16,117,615C/A—uncertain significance
rs75145278711:16,117,678T/C—likely benign
rs213397584311:16,119,163G/A—pathogenic
rs15096110511:16,119,184C/G—uncertain significance
rs249427622611:16,119,189G/T—uncertain significance
rs88917703111:16,119,199T/C—likely pathogenic
rs14171844211:16,119,215C/G—conflicting classifications of pathogenicity
rs74553215811:16,119,220C/T—uncertain significance
rs75807065611:16,133,363A/T—uncertain significance
rs7621823811:16,133,370G/A—uncertain significance
rs74870535211:16,133,373G/A—uncertain significance
rs100138128811:16,133,374G/T—uncertain significance
rs184923732611:16,133,376A/G—uncertain significance
rs120462482611:16,133,379G/C—uncertain significance
rs142855689411:16,133,406C/T—uncertain significance
rs461754811:16,133,413A/G—benign
rs76259800811:16,133,417C/T—likely benign
rs88784937911:16,133,418G/A—uncertain significance
rs184923970011:16,133,436T/C—likely pathogenic
rs37651631611:16,133,457T/C—uncertain significance
rs792642411:16,205,323T/C—benign

Showing 100 of 225 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.