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Gene PTPN11
Variant Q257L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTPN11 Q257L lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). Q257L has been demonstrated to confer resistance to SHP2 inhibitors in combination with T253M in culture (PMID: 30045908), but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Jul 2020).
Associated Drug Resistance

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Transcript NM_002834
gDNA chr12:g.112472957A>T
cDNA c.770A>T
Protein p.Q257L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_080601 chr12:g.112472957A>T c.770A>T p.Q257L RefSeq GRCh38/hg38
XM_006719526 chr12:g.112472957A>T c.770A>T p.Q257L RefSeq GRCh38/hg38
NM_002834 chr12:g.112472957A>T c.770A>T p.Q257L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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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  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PTPN11 T253M PTPN11 Q257L lung non-small cell carcinoma resistant Selumetinib + SHP099 Preclinical - Cell culture Actionable In a preclinical study, pancreatic ductal adenocarcinoma cells co-expressing PTPN11 T253M and PTPN11 Q257L were resistant to the combination therapy, Selumetinib (AZD6244) and SHP099, in culture (PMID: 30045908). 30045908
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 Q257L unknown
PTPN11 T253M PTPN11 Q257L