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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 an in vitro assay (PMID: 34849607), and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607), and is considered a kinase-dead mutation (PMID: 26864623). |
Associated Drug Resistance | |
Category Variants Paths |
STK11 mutant STK11 inact mut STK11 K78I |
Transcript | NM_000455.5 |
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 |
---|---|---|---|---|---|
NM_000455.5 | chr19:g.1207146_1207147delAGinsTC | c.233_234delAGinsTC | p.K78I | RefSeq | GRCh38/hg38 |
XM_005259617.3 | 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 |
XM_005259618.3 | chr19:g.1207146_1207147delAGinsTC | c.233_234delAGinsTC | p.K78I | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1207146_1207147delAGinsTC | c.233_234delAGinsTC | p.K78I | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1207146_1207147delAGinsTC | c.233_234delAGinsTC | p.K78I | RefSeq | GRCh38/hg38 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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