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Gene SETBP1
Variant I871T
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions SETBP1 I871T lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). I871T results in increased Setbp1 protein stability, enhanced cell proliferation, and is transforming in culture (PMID: 23832012, PMID: 28346496).
Associated Drug Resistance

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Transcript NM_015559.2
gDNA chr18:g.44951952T>C
cDNA c.2612T>C
Protein p.I871T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024451155.1 chr18:g.44951952T>C c.2612T>C p.I871T RefSeq GRCh38/hg38
XM_024451154.1 chr18:g.44951952T>C c.2612T>C p.I871T RefSeq GRCh38/hg38
XM_024451149.1 chr18:g.44951874T>C c.2612T>C p.I871T RefSeq GRCh38/hg38
XM_024451150.1 chr18:g.44951874T>C c.2612T>C p.I871T RefSeq GRCh38/hg38
XM_024451152.1 chr18:g.44951874T>C c.2612T>C p.I871T RefSeq GRCh38/hg38
XM_024451158.1 chr18:g.44951874T>C c.2612T>C p.I871T RefSeq GRCh38/hg38
XM_024451153.1 chr18:g.44951952T>C c.2612T>C p.I871T RefSeq GRCh38/hg38
NM_015559.2 chr18:g.44951952T>C c.2612T>C p.I871T RefSeq GRCh38/hg38
XM_024451151.1 chr18:g.44951874T>C c.2612T>C p.I871T RefSeq GRCh38/hg38
NM_015559 chr18:g.44951952T>C c.2612T>C p.I871T RefSeq GRCh38/hg38
XM_024451156.1 chr18:g.44951874T>C c.2612T>C p.I871T 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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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
SETBP1 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in SETBP1 were associated with poor prognosis in patients with myelodysplastic syndrome (PMID: 28447248, PMID: 28158286, PMID: 24127063, PMID: 23889083, PMID: 23832012). 23889083 24127063 28447248 23832012 28158286
SETBP1 mutant myelodysplastic/myeloproliferative neoplasm not applicable N/A Preclinical Emerging In a preclinical study, SETPB1 missense mutations conferred a predicted gain-of-function, resulting in transformation of murine myeloid progenitors and increased Pp2ac phosphorylation compared to wild-type SETBP1 in culture, suggesting that Setbp1 may serve as a potential therapeutic target (PMID: 23832012). 23832012
SETBP1 mutant chronic myelomonocytic leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in SETBP1 were associated with poor prognosis in patients with chronic myelomonocytic leukemia (PMID: 29225884, PMID: 28158286, PMID: 28209919, PMID: 23558523, PMID: 23832012). 29225884 28209919 23832012 23558523 28158286
Molecular Profile Protein Effect Treatment Approaches
SETBP1 I871T gain of function