Gene Variant Detail

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Gene PTPN11
Variant N308D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTPN11 N308D lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). The functional effect of N308D is conflicting, as it results in similar cell proliferation and viability levels to wild-type Ptpn11 in culture (PMID: 29533785), however, results in increased Ptpn11 phosphatase activity (PMID: 16358218, PMID: 12717436) and enhanced cell proliferation (PMID: 12717436) in other studies.
Associated Drug Resistance

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Transcript NM_002834
gDNA chr12:g.112477719A>G
cDNA c.922A>G
Protein p.N308D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002834 chr12:g.112477719A>G c.922A>G p.N308D RefSeq GRCh38/hg38
NM_080601 chr12:g.112477719A>G c.922A>G p.N308D RefSeq GRCh38/hg38
XM_006719526 chr12:g.112477719A>G c.922A>G p.N308D 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

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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 N308D unknown