Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | STK11 |
| Variant | G242V |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | STK11 G242V lies within the protein kinase domain of the Stk11 protein (UniProt.org). G242V confers a loss of function to Stk11 as demonstrated by 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 G242V |
| Transcript | NM_000455.5 |
| gDNA | chr19:g.1220708G>T |
| cDNA | c.725G>T |
| Protein | p.G242V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407255.1 | chr19:g.1220708G>T | c.725G>T | p.G242V | RefSeq | GRCh38/hg38 |
| XM_005259618 | chr19:g.1220708G>T | c.725G>T | p.G242V | RefSeq | GRCh38/hg38 |
| NM_000455 | chr19:g.1220708G>T | c.725G>T | p.G242V | RefSeq | GRCh38/hg38 |
| NM_000455.5 | chr19:g.1220708G>T | c.725G>T | p.G242V | RefSeq | GRCh38/hg38 |
| NM_000455.4 | chr19:g.1220708G>T | c.725G>T | p.G242V | RefSeq | GRCh38/hg38 |
| XM_005259617.3 | chr19:g.1220708G>T | c.725G>T | p.G242V | RefSeq | GRCh38/hg38 |
| XM_005259617 | chr19:g.1220708G>T | c.725G>T | p.G242V | RefSeq | GRCh38/hg38 |
| XM_005259618.3 | chr19:g.1220708G>T | c.725G>T | p.G242V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| STK11 G242V | loss of function | mTOR Inhibitor mTORC1 Inhibitor |