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Gene PTPN11
Variant A72D
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions PTPN11 A72D lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). A72D confers a gain of function to the Ptpn11 protein as demonstrated by increased phosphatase activity of Ptpn11 and activation of the MAPK and PI3K signaling pathways (J Clin Oncol 32, 2014 (suppl; abstr e22174)).
Associated Drug Resistance

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Transcript NM_002834
gDNA chr12:g.112450395C>A
cDNA c.215C>A
Protein p.A72D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_080601 chr12:g.112450395C>A c.215C>A p.A72D RefSeq GRCh38/hg38
NM_002834 chr12:g.112450395C>A c.215C>A p.A72D RefSeq GRCh38/hg38
XM_006719526 chr12:g.112450395C>A c.215C>A p.A72D RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FLT3 D835Y PTPN11 A72D hematologic cancer resistant Crenolanib Preclinical - Cell culture Actionable In a preclinical study, Crenolanib, did not decrease cell proliferation of transformed mouse cells expressing Flt3 D835Y and Ptpn11 A72D, indicating Ptpn11 A72D as a resistance mutation since Flt3 D835Y was sensitive alone (PMID: 30651561). 30651561
FLT3 D835Y PTPN11 A72D hematologic cancer sensitive Crenolanib + Trametinib Preclinical - Cell culture Actionable In a preclinical study, Crenolanib, in combination with Mekinist (trametinib), synergistically decreased cell proliferation of transformed mouse cells expressing Flt3 D835Y and Ptpn11 A72D (PMID: 30651561). 30651561
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PTPN11 act mut lung non-small cell carcinoma sensitive Refametinib Preclinical Actionable In a preclinical study, Refemetinib (BAY86-9766) inhibited growth of NSCLC cells harboring activating PTPN11 mutations in culture (J Clin Oncol 33, 2015(Suppl; abstr 11077)). detail...
PTPN11 mutant juvenile myelomonocytic leukemia not applicable N/A Clinical Study Emerging In two clinical studies, PTPN11 mutations were frequently identified in patients with juvenile myelomonocytic leukemia and were found to be associated with poor survival (PMID: 19047918, PMID: 21901340), suggesting that this may serve as a future prognostic biomarker. 21901340 19047918
Molecular Profile Protein Effect Treatment Approaches
PTPN11 A72D gain of function - predicted SHP2 Inhibitor
FLT3 D835Y PTPN11 A72D