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| Gene | STK11 |
| Variant | S216F |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | STK11 S216F lies within the protein kinase domain of the Stk11 protein (UniProt.org). S216F confers a loss of function to Stk11 as demonstrated by failure to activate the downstream kinase Ampk in an in vitro assay (PMID: 19892943), loss of kinase activity in an in vitro assay, and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607, PMID: 39934475). |
| Associated Drug Resistance | |
| Category Variants Paths |
STK11 mutant STK11 inact mut STK11 S216F |
| Transcript | NM_000455.5 |
| gDNA | chr19:g.1220630C>T |
| cDNA | c.647C>T |
| Protein | p.S216F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000455.4 | chr19:g.1220630C>T | c.647C>T | p.S216F | RefSeq | GRCh38/hg38 |
| NM_000455.5 | chr19:g.1220630C>T | c.647C>T | p.S216F | RefSeq | GRCh38/hg38 |
| NM_001407255.1 | chr19:g.1220630C>T | c.647C>T | p.S216F | RefSeq | GRCh38/hg38 |
| XM_005259617 | chr19:g.1220630C>T | c.647C>T | p.S216F | RefSeq | GRCh38/hg38 |
| NM_000455 | chr19:g.1220630C>T | c.647C>T | p.S216F | RefSeq | GRCh38/hg38 |
| XM_005259618 | chr19:g.1220630C>T | c.647C>T | p.S216F | RefSeq | GRCh38/hg38 |
| XM_005259618.3 | chr19:g.1220630C>T | c.647C>T | p.S216F | RefSeq | GRCh38/hg38 |
| XM_005259617.3 | chr19:g.1220630C>T | c.647C>T | p.S216F | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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