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Gene PTPN11
Variant Q79R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTPN11 Q79R lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). The functional effect of Q79R is conflicting, as it increases protein tyrosine phosphatase activity and induces increased proliferation in cell culture in one study (PMID: 16166557), however in another study, results in similar cell proliferation and viability levels to wild-type Ptpn11 (PMID: 29533785).
Associated Drug Resistance

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Transcript NM_002834
gDNA chr12:g.112450416A>G
cDNA c.236A>G
Protein p.Q79R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_080601 chr12:g.112450416A>G c.236A>G p.Q79R RefSeq GRCh38/hg38
XM_006719526 chr12:g.112450416A>G c.236A>G p.Q79R RefSeq GRCh38/hg38
NM_002834 chr12:g.112450416A>G c.236A>G p.Q79R 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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 Q79R unknown