Gene Variant Detail

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Gene STK11
Variant K78I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions STK11 K78I lies within the protein kinase domain of the Stk11 protein (UniProt.org). K78I confers a loss of function to the Stk11 protein, as demonstrated by loss of kinase activity in cell culture (PMID: 15731909, PMID: 9837816), and is considered a kinase-dead mutation (PMID: 26864623).
Associated Drug Resistance

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Transcript NM_000455
gDNA chr19:g.1207146_1207147delAGinsTC
cDNA c.233_234delAGinsTC
Protein p.K78I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005259617 chr19:g.1207146_1207147delAGinsTC c.233_234delAGinsTC p.K78I RefSeq GRCh38/hg38
XM_005259618 chr19:g.1207146_1207147delAGinsTC c.233_234delAGinsTC p.K78I RefSeq GRCh38/hg38
NM_000455 chr19:g.1207146_1207147delAGinsTC c.233_234delAGinsTC p.K78I 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 K78I loss of function mTOR Inhibitor mTORC1 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References