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Gene | STK11 |
Variant | F354L |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 F354L lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). F354L results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and does not disrupt Stk11 autophosphorylation or growth suppression by Stk11, but results in decreased Ampk phosphorylation and increased mTOR signaling, and alters cell polarization in culture (PMID: 15800014), and therefore, is predicted to lead to a loss of Stk11 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
STK11 mutant STK11 inact mut STK11 F354L |
Transcript | NM_000455.5 |
gDNA | chr19:g.1223124T>C |
cDNA | c.1060T>C |
Protein | p.F354L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005259618.3 | chr19:g.1223124T>C | c.1060T>C | p.F354L | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1223124T>C | c.1060T>C | p.F354L | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1223124T>C | c.1060T>C | p.F354L | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1223124T>C | c.1060T>C | p.F354L | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1223124T>C | c.1060T>C | p.F354L | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1223124T>C | c.1060T>C | p.F354L | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1223124T>C | c.1060T>C | p.F354L | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1223124T>C | c.1060T>C | p.F354L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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