Missing content? – Request curation!
Request curation for specific Genes, variants, or PubMed publications.
Have questions, comments or suggestions? - Let us know!
Email us at : firstname.lastname@example.org
|Protein Effect||gain of function - predicted|
|Gene Variant Descriptions||PTPN11 G503A lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). G503A, in the context of KMT2A-MLLT10, leads to increased colony size and cell cycle alterations in response to growth factor in culture, macrophage differentiation, and leukemogenesis induction in a shorter time period in mouse models compared to the KMT2A-MLLT10 fusion alone, and individually, results in increased phosphatase activity in an in vitro assay (PMID: 27859216), and therefore, is predicted to lead to a gain of Ptpn11 protein function.|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|