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|Synonyms||BPTP3 | CFC | JMML | METCDS | NS1 | PTP-1D | PTP2C | SH-PTP2 | SH-PTP3 | SHP2|
|Gene Description||PTPN11, protein tyrosine phosphatase non-receptor type 11, is a member of the PTP Src homology-2 (SH2) domain-containing phosphatases that induces the MAPK signal transduction pathway to regulate growth factor signaling and has been characterized as both an oncogene and tumor suppressor (PMID: 20337577, PMID: 28074573). PTPN11 activating mutations have been identified in a variety of tumors including, lung, colon, brain, thyroid, skin and heme (PMID: 18286234, PMID: 21407260), PTPN11 hypomethylation has been observed in gastric cancer (PMID: 32194661), and germline mutations are implicated in Noonan syndrome (PMID: 28328117, PMID: 32233106).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||PTPN11 act mut indicates that this variant results in a gain of function in the Ptpn11 protein. However, the specific amino acid change has not been identified.|
|inact mut||unknown||loss of function||PTPN11 inact mut indicates that this variant results in a loss of function of the Ptpn11 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||PTPN11 mutant indicates an unspecified mutation in the PTPN11 gene.|