LNX1

ligand of numb-protein X 1

Summary

This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants57 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7710164434:54,327,103T/A—uncertain significance
rs7768796284:54,327,112T/A—uncertain significance
rs7617771974:54,327,160T/G—uncertain significance
rs5456506584:54,327,689C/T—uncertain significance
rs7507642914:54,327,737A/G—uncertain significance
rs24124884:54,330,867A/T——
rs596514954:54,337,311T/Cintron variant—
rs125032294:54,338,855A/G——
rs623235644:54,340,999T/Cintron variant—
rs7477554514:54,343,025T/C—uncertain significance
rs7600019974:54,343,047C/T—uncertain significance
rs3704570524:54,343,100C/T—uncertain significance
rs5425429034:54,344,810T/C—uncertain significance
rs1412366584:54,344,855G/A—uncertain significance
rs11614445904:54,347,936C/T—uncertain significance
rs1381513114:54,347,946C/T—likely benign
rs623235674:54,349,317C/Tintron variant—
rs569212214:54,352,164G/Aintron variant—
rs126424374:54,361,792C/Tupstream gene variant—
rs12043112424:54,362,209C/T—uncertain significance
rs1378866454:54,362,225A/G—uncertain significance
rs1122950464:54,362,332T/C—uncertain significance
rs3742857864:54,362,345G/A—uncertain significance
rs24765024504:54,362,354T/C—uncertain significance
rs24765025124:54,362,374G/A—uncertain significance
rs1423204074:54,362,413C/T—uncertain significance
rs7785842574:54,362,422T/C—uncertain significance
rs24765026704:54,362,423A/C—uncertain significance
rs5512141844:54,362,471G/A—uncertain significance
rs17252603584:54,364,945C/G—uncertain significance
rs14253941124:54,364,950C/T—uncertain significance
rs17259659034:54,373,486T/C—uncertain significance
rs1434978474:54,373,551G/C—uncertain significance
rs7633477624:54,373,586T/A—uncertain significance
rs1416033174:54,373,613T/C—uncertain significance
rs5763517224:54,373,622T/C—uncertain significance
rs1998232484:54,373,634G/A—uncertain significance
rs7571569274:54,374,249C/T—uncertain significance
rs125014314:54,376,220T/Gintron variant—
rs623236014:54,377,991C/Aintron variant—
rs14352184:54,401,899C/Tintron variantassociation
rs1125750864:54,429,890C/A——
rs5726945424:54,439,870C/G—uncertain significance
rs7601263604:54,439,889A/T—uncertain significance
rs7668832044:54,439,890C/A—uncertain significance
rs3711679384:54,439,895A/T—uncertain significance
rs7780939504:54,439,934C/T—uncertain significance
rs7463362044:54,440,006G/A—uncertain significance
rs7530268324:54,440,036A/G—uncertain significance
rs7811094884:54,440,060T/C—uncertain significance
rs1997479194:54,440,133G/C—uncertain significance
rs5687103954:54,480,595C/G——
rs26164184:54,490,487G/Aintron variant—
rs623255104:54,506,784C/Gregulatory region variant—
rs177308834:54,511,847G/Cintron variant—
rs48648094:54,511,913G/Aintron variant—
rs68432914:54,518,222G/Aintron variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.