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| Gene | STK11 |
| Variant | T250P |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | STK11 T250P lies within the protein kinase domain of the Stk11 protein (UniProt.org). T250P results in failure to activate Ampk in an in vitro assay (PMID: 19892943), 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 T250P |
| Transcript | NM_000455.5 |
| gDNA | chr19:g.1221226A>C |
| cDNA | c.748A>C |
| Protein | p.T250P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005259617.3 | chr19:g.1221226A>C | c.748A>C | p.T250P | RefSeq | GRCh38/hg38 |
| NM_000455.4 | chr19:g.1221226A>C | c.748A>C | p.T250P | RefSeq | GRCh38/hg38 |
| XM_005259617 | chr19:g.1221226A>C | c.748A>C | p.T250P | RefSeq | GRCh38/hg38 |
| XM_005259618 | chr19:g.1221226A>C | c.748A>C | p.T250P | RefSeq | GRCh38/hg38 |
| NM_001407255.1 | chr19:g.1221226A>C | c.748A>C | p.T250P | RefSeq | GRCh38/hg38 |
| NM_000455 | chr19:g.1221226A>C | c.748A>C | p.T250P | RefSeq | GRCh38/hg38 |
| XM_005259618.3 | chr19:g.1221226A>C | c.748A>C | p.T250P | RefSeq | GRCh38/hg38 |
| NM_000455.5 | chr19:g.1221226A>C | c.748A>C | p.T250P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| STK11 T250P | loss of function - predicted | mTOR Inhibitor mTORC1 Inhibitor |