Gene Variant Detail

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Gene STK11
Variant D194E
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions STK11 D194E lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194E has not been biochemically characterized, but is associated with Peutz-Jehgers syndrome and is predicted to result in a loss of Stk11 protein function (PMID: 21189378).
Associated Drug Resistance

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Transcript NM_000455
gDNA chr19:g.1220490C>G
cDNA c.582C>G
Protein p.D194E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000455 chr19:g.1220490C>G c.582C>G p.D194E RefSeq GRCh38/hg38
XM_005259617 chr19:g.1220490C>G c.582C>G p.D194E RefSeq GRCh38/hg38
XM_005259618 chr19:g.1220490C>G c.582C>G p.D194E 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 Protein Effect Treatment Approaches
STK11 D194E loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
STK11 D194E STK11 loss
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
STK11 D194E STK11 loss pancreatic cancer predicted - sensitive Everolimus Case Reports/Case Series Actionable In a clinical case study, a pancreatic cancer patient with Peutz-Jeghers syndrome harboring STK11 D194E and loss of heterozygosity of the other STK11 allele in the tumor achieved a partial response following treatment with Afinitor (everolimus), but progressed after 9 months (PMID: 21189378). 21189378