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Gene | STK11 |
Variant | E57fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 E57fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 57 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). E57fs has not been characterized however, due to the effects of other truncation mutations downstream of E57 (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 E57fs |
Transcript | NM_000455.5 |
gDNA | chr19:g.(1207081_1207082) |
cDNA | c.(169_168) |
Protein | p.E57fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000455.4 | chr19:g.(1207081_1207082) | c.(169_168) | p.E57fs | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.(1207081_1207082) | c.(169_168) | p.E57fs | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.(1207081_1207082) | c.(169_168) | p.E57fs | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.(1207081_1207082) | c.(169_168) | p.E57fs | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.(1207081_1207082) | c.(169_168) | p.E57fs | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.(1207081_1207082) | c.(169_168) | p.E57fs | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.(1207081_1207082) | c.(169_168) | p.E57fs | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.(1207081_1207082) | c.(169_168) | p.E57fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
STK11 E57fs | 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 E57fs, demonstrated increased sensitivity to Mekinist (trametinib) in culture (PMID: 27821489). | 27821489 |