NFS1

NFS1 cysteine desulfurase

Summary

Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]

Known Variants121 total

rsidPosition (GRCh37)AllelesClassClinVar
rs726775920:34,257,284G/T—benign
rs1709296020:34,257,297T/C—likely benign
rs218028020:34,257,351T/C—benign
rs14541095020:34,257,560T/C—uncertain significance
rs18974848220:34,257,566C/T—likely benign
rs90326173220:34,257,579T/C—uncertain significance
rs36809994720:34,257,601G/C—likely benign
rs75528286420:34,257,623G/A—likely benign
rs606054620:34,257,663A/C—benign
rs7361669120:34,257,795G/A—likely benign
rs612102520:34,260,420G/A—benign
rs11278255120:34,260,424C/T—benign
rs155588332220:34,260,666A/C—likely benign
rs14880260020:34,260,668T/C—likely benign
rs36897188320:34,260,672T/C—likely benign
rs18814455720:34,260,692C/T—uncertain significance
rs37167212520:34,260,704T/G—uncertain significance
rs37354343020:34,260,785G/A—likely benign
rs7327723120:34,260,880T/A—likely benign
rs3462158820:34,260,921A/G—likely benign
rs11252137320:34,260,980T/C—benign
rs5965887820:34,261,231A/G—benign
rs7361669620:34,261,283C/T—likely benign
rs7566917520:34,261,460G/C—benign
rs20043293520:34,261,527T/C—uncertain significance
rs14786703820:34,261,542A/G—likely benign
rs125569468520:34,261,609G/A—uncertain significance
rs20061798620:34,261,622C/G—likely benign
rs1733661520:34,262,011A/C—benign
rs6161224120:34,262,261G/A—benign
rs251547423120:34,262,297T/G—uncertain significance
rs75354969620:34,262,329T/C—uncertain significance
rs214641303320:34,262,348T/C—uncertain significance
rs18471021920:34,262,365A/C—likely benign
rs75517382620:34,262,373T/C—uncertain significance
rs76346286920:34,262,435G/A—conflicting classifications of pathogenicity
rs251547453420:34,262,458C/G—uncertain significance
rs78145450620:34,262,470C/T—uncertain significance
rs251547458220:34,262,480G/T—uncertain significance
rs77126141720:34,262,505C/T—uncertain significance
rs77942023220:34,262,506G/A—uncertain significance
rs251547462620:34,262,513C/T—likely benign
rs14168422520:34,262,538T/C—uncertain significance
rs102262357420:34,262,544G/A—likely benign
rs76924413220:34,262,947G/A—likely benign
rs77426665520:34,262,966C/A—uncertain significance
rs76756233420:34,262,971A/G—uncertain significance
rs76548959820:34,263,060C/T—likely benign
rs74565005120:34,263,092G/A—uncertain significance
rs77201051920:34,263,093G/A—likely benign
rs77550570620:34,263,097C/T—uncertain significance
rs14082623920:34,263,104G/A—uncertain significance
rs251547576220:34,263,105G/A—likely benign
rs19984365120:34,263,133C/A—likely benign
rs74552333320:34,268,652C/A—likely benign
rs77195563920:34,268,668C/T—uncertain significance
rs37316373320:34,268,669G/A—likely benign
rs75184099920:34,268,749C/A—uncertain significance
rs127080845720:34,268,778G/C—uncertain significance
rs251548132320:34,268,782T/C—uncertain significance
rs14182300620:34,268,786A/T—likely benign
rs13959379320:34,268,992G/A—likely benign
rs606055520:34,269,547A/G—benign
rs606055620:34,269,577A/G—benign
rs75123700220:34,269,817T/G—likely benign
rs13787126420:34,269,852C/T—uncertain significance
rs251548271120:34,269,865C/T—likely benign
rs90608330720:34,269,872C/A—uncertain significance
rs74935667820:34,269,873T/A—uncertain significance
rs76115823320:34,269,894C/A—uncertain significance
rs606055820:34,271,092C/Gintron variant—
rs77907475520:34,278,316T/A—likely benign
rs77388938120:34,278,375G/A—uncertain significance
rs75903609520:34,278,378A/G—uncertain significance
rs11244698120:34,278,459T/C—likely benign
rs14194534720:34,278,477C/T—likely benign
rs19159756920:34,278,526C/G—likely benign
rs14718584120:34,280,449T/Cintron variant—
rs19097176620:34,282,726G/A—likely benign
rs76022241820:34,284,283G/T—likely benign
rs76779118620:34,284,352G/A—uncertain significance
rs251550149120:34,284,360G/A—uncertain significance
rs811641420:34,284,553C/A—benign
rs15128799720:34,284,618T/C—likely benign
rs7949690620:34,285,349G/A—benign
rs606056520:34,285,442C/T—benign
rs7328102720:34,285,522T/A—benign
rs77076273020:34,285,597T/G—likely benign
rs75420217620:34,285,612A/G—likely benign
rs251550339820:34,285,622A/G—uncertain significance
rs74637398820:34,285,631T/G—uncertain significance
rs20022248820:34,285,648A/T—likely benign
rs76929938520:34,285,657C/A—likely benign
rs105752326420:34,285,708A/T—likely benign
rs20059203020:34,285,715C/T—conflicting classifications of pathogenicity
rs56366440620:34,285,734A/C—likely benign
rs6221167620:34,285,793C/G—likely benign
rs5611651820:34,286,251G/T—benign
rs727363720:34,286,315A/T—benign
rs14825756120:34,286,318T/A—likely benign

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

Gene information from NCBI Gene. Variant classifications from ClinVar.