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Gene | STK11 |
Variant | K262Sfs*25 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 K262Sfs*25 indicates a shift in the reading frame starting at amino acid 262 and terminating 257 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). K262Sfs*25 has not been characterized however, due to the effects of other truncation mutations downstream of K262 (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 K262Sfs*25 |
Transcript | NM_000455.5 |
gDNA | chr19:g.1221263delA |
cDNA | c.785delA |
Protein | p.K262Sfs*25 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000455.4 | chr19:g.1221263delA | c.785delA | p.K262Sfs*25 | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1221263delA | c.785delA | p.K262Sfs*25 | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1221263delA | c.785delA | p.K262Sfs*25 | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1221263delA | c.785delA | p.K262Sfs*25 | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1221263delA | c.785delA | p.K262Sfs*25 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
STK11 K262Sfs*25 | gallbladder carcinoma | no benefit | Everolimus | Case Reports/Case Series | Actionable | In a clinical case study, treatment with Afinitor (everolimus) resulted in disease progression in a patient with gallbladder carcinoma harboring STK11 K262Sfs*25 and ATM S1905Ifs*25 who had previously progressed on Lynparza (olaparib) treatment after a 13 month progression-free survival (PMID: 32045060). | 32045060 |