Gene Variant Detail

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Gene STK11
Variant K48fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions STK11 K48fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 48 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). K48fs has not been characterized however, due to the effects of other truncation mutations downstream of K48 (PMID: 23612973), K48fs is predicted to lead to a loss of Stk11 protein function.
Associated Drug Resistance

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Transcript NM_000455
gDNA chr19:g.(1207054_1207055)
cDNA c.(142_141)
Protein p.K48fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000455 chr19:g.(1207054_1207055) c.(142_141) p.K48fs RefSeq GRCh38/hg38
XM_011528209 chr19:g.(1218489_1218490) c.(142_141) p.K48fs RefSeq GRCh38/hg38
XM_005259617 chr19:g.(1207054_1207055) c.(142_141) p.K48fs RefSeq GRCh38/hg38
XM_005259618 chr19:g.(1207054_1207055) c.(142_141) p.K48fs 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 Protein Effect Treatment Approaches
STK11 K48fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
STK11 K48fs lung non-small cell carcinoma sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, non-small cell lung cancer cell lines harboring STK11 inactivating mutations, such as STK11 K48fs, demonstrated increased sensitivity to Mekinist (trametinib) in culture (PMID: 27821489). 27821489