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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), is predicted to lead to a loss of Stk11 protein function.
Associated Drug Resistance
Category Variants Paths

STK11 mutant STK11 inact mut STK11 K48fs

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Transcript NM_000455.5
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
XM_005259617.3 chr19:g.(1207054_1207055) c.(142_141) p.K48fs RefSeq GRCh38/hg38
XM_005259618.3 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
NM_000455 chr19:g.(1207054_1207055) c.(142_141) p.K48fs RefSeq GRCh38/hg38
XM_011528209.2 chr19:g.(1218489_1218490) c.(142_141) p.K48fs RefSeq GRCh38/hg38
XM_005259618 chr19:g.(1207054_1207055) c.(142_141) p.K48fs RefSeq GRCh38/hg38
NM_000455.5 chr19:g.(1207054_1207055) c.(142_141) p.K48fs RefSeq GRCh38/hg38
NM_001407255.1 chr19:g.(1207054_1207055) c.(142_141) p.K48fs RefSeq GRCh38/hg38
XM_005259617 chr19:g.(1207054_1207055) c.(142_141) p.K48fs RefSeq GRCh38/hg38
NM_000455.4 chr19:g.(1207054_1207055) c.(142_141) p.K48fs RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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