CBL

Cbl proto-oncogene

Summary

This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]

Known Variants1,273 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54187783411:119,076,963C/T—likely benign
rs52784975711:119,076,971A/G—likely benign
rs710885711:119,077,003C/T—benign
rs88604776411:119,077,004G/T—uncertain significance
rs88604776511:119,077,006C/T—uncertain significance
rs55054810711:119,077,012C/T—likely benign
rs88604776611:119,077,015C/T—uncertain significance
rs56901449511:119,077,022G/A—benign
rs54826220811:119,077,032G/A—likely benign
rs159236445811:119,077,045C/T—uncertain significance
rs88604776711:119,077,049C/T—uncertain significance
rs75152843011:119,077,087C/T—uncertain significance
rs20212061311:119,077,102G/C—benign
rs55221411111:119,077,123A/G—conflicting classifications of pathogenicity
rs90909873211:119,077,128A/G—uncertain significance
rs77047307011:119,077,133C/G—likely benign
rs136276382511:119,077,135G/T—uncertain significance
rs37156771211:119,077,139C/T—likely benign
rs74635540611:119,077,143A/C—uncertain significance
rs148159877011:119,077,145G/T—uncertain significance
rs93086017511:119,077,150G/A—uncertain significance
rs117050174911:119,077,152T/C—uncertain significance
rs77252501811:119,077,153C/T—uncertain significance
rs213524395011:119,077,157G/A—likely benign
rs249681911211:119,077,158G/T—uncertain significance
rs130210162411:119,077,159C/G—uncertain significance
rs76096859311:119,077,160C/T—likely benign
rs76436965311:119,077,163G/A—likely benign
rs249681915511:119,077,164G/A—uncertain significance
rs76199951911:119,077,166C/T—likely benign
rs156585154211:119,077,167G/A—uncertain significance
rs86879142211:119,077,168G/A—uncertain significance
rs129988968911:119,077,175C/T—conflicting classifications of pathogenicity
rs135730816811:119,077,176T/C—uncertain significance
rs148347910311:119,077,178C/T—likely benign
rs249681925211:119,077,181G/T—likely benign
rs125765049411:119,077,182G/A—uncertain significance
rs75057299611:119,077,186C/T—uncertain significance
rs75858342711:119,077,187G/T—likely benign
rs155522510011:119,077,193G/A—likely benign
rs213524406411:119,077,195G/C—uncertain significance
rs118875702611:119,077,198G/C—conflicting classifications of pathogenicity
rs213524410011:119,077,204T/C—uncertain significance
rs93305894411:119,077,207G/T—uncertain significance
rs194926979211:119,077,208G/A—likely benign
rs249681937311:119,077,209C/T—uncertain significance
rs249681937711:119,077,210T/C—uncertain significance
rs75269722511:119,077,211C/T—likely benign
rs116255269111:119,077,212A/G—uncertain significance
rs37667943811:119,077,220C/A—uncertain significance
rs213524413811:119,077,221G/A—uncertain significance
rs129662483311:119,077,223C/T—likely benign
rs98722508311:119,077,225T/A—uncertain significance
rs131592470911:119,077,229G/A—likely benign
rs249681945011:119,077,232G/T—likely benign
rs194927009111:119,077,233C/A—uncertain significance
rs74896108011:119,077,235C/G—uncertain significance
rs249681949511:119,077,241C/G—uncertain significance
rs249681949911:119,077,242C/T—uncertain significance
rs249681950411:119,077,244C/T—likely benign
rs194927038211:119,077,245C/G—uncertain significance
rs74532849611:119,077,247C/G—uncertain significance
rs213524419211:119,077,248C/T—uncertain significance
rs14451295911:119,077,250C/T—likely benign
rs36881306711:119,077,251C/T—uncertain significance
rs73088043311:119,077,252A/T—conflicting classifications of pathogenicity
rs99597749111:119,077,253C/T—likely benign
rs135870406111:119,077,254C/A—uncertain significance
rs142683885811:119,077,256C/T—likely benign
rs122247672511:119,077,259C/T—likely benign
rs102875712611:119,077,263C/T—uncertain significance
rs88888033111:119,077,268G/A—likely benign
rs249681963311:119,077,270C/T—uncertain significance
rs20129190711:119,077,276C/T—uncertain significance
rs121113233911:119,077,277G/C—likely benign
rs213524424811:119,077,283C/A—uncertain significance
rs249681968211:119,077,284A/G—uncertain significance
rs156585161111:119,077,285A/G—uncertain significance
rs249681969911:119,077,287A/G—uncertain significance
rs249681973711:119,077,300A/G—uncertain significance
rs213524425911:119,077,301G/A—likely benign
rs249681975911:119,077,309A/G—uncertain significance
rs145963588311:119,077,311C/T—uncertain significance
rs118243935111:119,077,312T/A—uncertain significance
rs156585162811:119,077,319C/G—uncertain significance
rs249681978211:119,077,320A/C—uncertain significance
rs76206270511:119,077,325G/A—conflicting classifications of pathogenicity
rs194927120111:119,077,327A/G—uncertain significance
rs87885475511:119,077,332C/A—likely benign
rs104028300411:119,077,334G/C—likely benign
rs89334730011:119,077,335C/T—benign
rs101187270311:119,077,336T/G—likely benign
rs194927133811:119,077,339G/A—likely benign
rs213524429811:119,077,340C/T—likely benign
rs102061475511:119,077,341G/T—likely benign
rs37190733211:119,077,344C/T—likely benign
rs18604402111:119,077,398G/C—benign
rs215538011:119,080,037A/Gintron variant—
rs18534552411:119,082,840G/Tintron variant—
rs3610990111:119,083,318A/Cintron variant—

Showing 100 of 1,273 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.