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/Auncertain significance
rs7768796284:54,327,112T/Auncertain significance
rs7617771974:54,327,160T/Guncertain significance
rs5456506584:54,327,689C/Tuncertain significance
rs7507642914:54,327,737A/Guncertain 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/Cuncertain significance
rs7600019974:54,343,047C/Tuncertain significance
rs3704570524:54,343,100C/Tuncertain significance
rs5425429034:54,344,810T/Cuncertain significance
rs1412366584:54,344,855G/Auncertain significance
rs11614445904:54,347,936C/Tuncertain significance
rs1381513114:54,347,946C/Tlikely benign
rs623235674:54,349,317C/Tintron variant
rs569212214:54,352,164G/Aintron variant
rs126424374:54,361,792C/Tupstream gene variant
rs12043112424:54,362,209C/Tuncertain significance
rs1378866454:54,362,225A/Guncertain significance
rs1122950464:54,362,332T/Cuncertain significance
rs3742857864:54,362,345G/Auncertain significance
rs24765024504:54,362,354T/Cuncertain significance
rs24765025124:54,362,374G/Auncertain significance
rs1423204074:54,362,413C/Tuncertain significance
rs7785842574:54,362,422T/Cuncertain significance
rs24765026704:54,362,423A/Cuncertain significance
rs5512141844:54,362,471G/Auncertain significance
rs17252603584:54,364,945C/Guncertain significance
rs14253941124:54,364,950C/Tuncertain significance
rs17259659034:54,373,486T/Cuncertain significance
rs1434978474:54,373,551G/Cuncertain significance
rs7633477624:54,373,586T/Auncertain significance
rs1416033174:54,373,613T/Cuncertain significance
rs5763517224:54,373,622T/Cuncertain significance
rs1998232484:54,373,634G/Auncertain significance
rs7571569274:54,374,249C/Tuncertain 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/Guncertain significance
rs7601263604:54,439,889A/Tuncertain significance
rs7668832044:54,439,890C/Auncertain significance
rs3711679384:54,439,895A/Tuncertain significance
rs7780939504:54,439,934C/Tuncertain significance
rs7463362044:54,440,006G/Auncertain significance
rs7530268324:54,440,036A/Guncertain significance
rs7811094884:54,440,060T/Cuncertain significance
rs1997479194:54,440,133G/Cuncertain 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.