Gene Variant Detail

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Gene STK11
Variant F354L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions STK11 F354L lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). F354L results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and does not disrupt Stk11 autophosphorylation or growth suppression by Stk11, but results in decreased Ampk phosphorylation and increased mTOR signaling, and alters cell polarization in culture (PMID: 15800014), and therefore, is predicted to lead to a loss of Stk11 protein function.
Associated Drug Resistance
Category Variants Paths

STK11 mutant STK11 inact mut STK11 F354L

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Transcript NM_000455.5
gDNA chr19:g.1223124T>C
cDNA c.1060T>C
Protein p.F354L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000455 chr19:g.1223124T>C c.1060T>C p.F354L RefSeq GRCh38/hg38
XM_005259618 chr19:g.1223124T>C c.1060T>C p.F354L RefSeq GRCh38/hg38
XM_005259617 chr19:g.1223124T>C c.1060T>C p.F354L RefSeq GRCh38/hg38
NM_000455.5 chr19:g.1223124T>C c.1060T>C p.F354L RefSeq GRCh38/hg38
NM_000455.4 chr19:g.1223124T>C c.1060T>C p.F354L RefSeq GRCh38/hg38
XM_005259618.3 chr19:g.1223124T>C c.1060T>C p.F354L RefSeq GRCh38/hg38
NM_001407255.1 chr19:g.1223124T>C c.1060T>C p.F354L RefSeq GRCh38/hg38
XM_005259617.3 chr19:g.1223124T>C c.1060T>C p.F354L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
STK11 F354L triple-receptor negative breast cancer predicted - sensitive Everolimus + Exemestane Case Reports/Case Series Actionable In a clinical case study, Afinitor (everolimus) in combination with Aromasin (exemestane) resulted in complete response ongoing for 14 months in a patient with metastatic triple-receptor negative breast cancer harboring STK11 F354L (PMID: 28550065). 28550065