PTPN11

protein tyrosine phosphatase non-receptor type 11

Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]

Known Variants759 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37353743012:112,856,599C/G—uncertain significance
rs99756289612:112,856,625G/A—uncertain significance
rs37749629212:112,856,629G/C—likely benign
rs5880517612:112,856,643G/A—benign
rs88604896312:112,856,671C/G—uncertain significance
rs54536907212:112,856,737G/C—uncertain significance
rs91939155712:112,856,740G/T—uncertain significance
rs89315871712:112,856,755T/A—uncertain significance
rs88919024612:112,856,765C/A—uncertain significance
rs88604896412:112,856,777G/A—uncertain significance
rs76641279912:112,856,839G/A—uncertain significance
rs146394959412:112,856,845C/T—uncertain significance
rs58778113112:112,856,871T/G—benign
rs213581733312:112,856,883G/A—benign
rs76037421212:112,856,903G/A—conflicting classifications of pathogenicity
rs126702575112:112,856,909G/A—uncertain significance
rs26760699012:112,856,920C/Tmissense variantpathogenic
rs76823871012:112,856,921A/G—likely benign
rs88604151712:112,856,925C/G—conflicting classifications of pathogenicity
rs249975622912:112,856,926G/A—likely pathogenic
rs124417186712:112,856,935G/T—uncertain significance
rs88604896512:112,856,937G/T—uncertain significance
rs213581752712:112,856,938C/A—likely benign
rs148650512112:112,856,940C/A—likely benign
rs77636670512:112,856,941C/G—likely benign
rs203747464112:112,856,944G/A—likely benign
rs797257412:112,856,954G/C—benign
rs55372713012:112,856,971C/T—benign
rs797343212:112,856,983C/A—benign
rs1106630112:112,871,372A/Gintron variant—
rs57409875712:112,877,594A/C——
rs72750537812:112,884,042C/T—benign
rs213585623012:112,884,060A/G—likely benign
rs77958790412:112,884,061C/A—likely benign
rs104929304112:112,884,064T/C—likely benign
rs136226676112:112,884,065G/A—likely benign
rs76824000912:112,884,077A/C—likely benign
rs7920312212:112,884,083G/C—uncertain significance
rs36863351012:112,884,093A/G—uncertain significance
rs20061353112:112,884,094A/G—uncertain significance
rs118157997212:112,884,097T/C—uncertain significance
rs138682789212:112,884,099A/G—uncertain significance
rs76008674012:112,884,101T/C—likely benign
rs254041049112:112,884,107G/A—likely benign
rs37273622712:112,884,113A/G—likely benign
rs58777863512:112,884,118A/G—benign
rs203799384112:112,884,120C/G—uncertain significance
rs254041056212:112,884,125G/A—likely benign
rs75753717512:112,884,129A/G—uncertain significance
rs39751680812:112,884,131A/G—likely benign
rs213585644812:112,884,145G/A—uncertain significance
rs254041065412:112,884,156G/T—uncertain significance
rs203799443312:112,884,157C/G—likely pathogenic
rs213585647212:112,884,164T/C—likely benign
rs93438833512:112,884,168A/C—uncertain significance
rs203799465112:112,884,169A/T—uncertain significance
rs131284229312:112,884,173T/C—likely benign
rs75820936012:112,884,179T/G—likely benign
rs88604158512:112,884,180G/A—uncertain significance
rs77981352912:112,884,182A/C—likely benign
rs39751679512:112,884,184A/G—uncertain significance
rs39750750112:112,884,189A/Gmissense variantpathogenic
rs156616498712:112,884,192C/T—conflicting classifications of pathogenicity
rs39750750212:112,884,197C/T—conflicting classifications of pathogenicity
rs203799535212:112,884,198G/A—uncertain significance
rs72750538712:112,884,237G/A—benign
rs53727388612:112,884,244A/G—likely benign
rs76125929212:112,884,251A/T—likely benign
rs797646712:112,887,941G/C—benign
rs254041545812:112,888,110G/A—uncertain significance
rs95986812412:112,888,118T/G—likely benign
rs213586183612:112,888,120A/G—likely pathogenic
rs213586186712:112,888,129G/A—uncertain significance
rs58777863612:112,888,132G/A—uncertain significance
rs39750750312:112,888,139C/Tmissense variantpathogenic
rs14738818512:112,888,140C/T—likely benign
rs120782951612:112,888,146C/T—likely benign
rs126166754012:112,888,148A/G—uncertain significance
rs39750750412:112,888,150A/G—pathogenic
rs105238267212:112,888,151T/C—likely pathogenic
rs213586201012:112,888,155G/T—likely pathogenic
rs39750750512:112,888,156A/Cmissense variantpathogenic
rs75143778012:112,888,157A/Gmissense variantpathogenic
rs39750750612:112,888,158C/Gmissense variantpathogenic
rs88604379012:112,888,159A/G—conflicting classifications of pathogenicity
rs39750750712:112,888,162G/Cmissense variantpathogenic
rs39750750912:112,888,163G/Tmissense variantpathogenic
rs39750751012:112,888,165G/Amissense variantpathogenic
rs12191846112:112,888,166A/Gmissense variantpathogenic
rs12191846012:112,888,168T/Amissense variantpathogenic
rs101341921112:112,888,169A/C—likely pathogenic
rs12191845912:112,888,172A/Gmissense variantpathogenic
rs254041578312:112,888,182T/C—likely benign
rs39750751112:112,888,189G/Cmissense variantpathogenic
rs72750338012:112,888,190A/T—pathogenic
rs39751680112:112,888,193A/Gmissense variantpathogenic
rs213586228912:112,888,194A/G—likely benign
rs39750751212:112,888,195T/Gmissense variantpathogenic
rs155526755812:112,888,197T/G—pathogenic
rs12191845312:112,888,198G/Amissense variantpathogenic

Showing 100 of 759 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.