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| Gene | STK11 |
| Variant | D53Gfs*110 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | STK11 D53Gfs*110 indicates a shift in the reading frame starting at amino acid 53 and terminating 110 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). D53Gfs*110 has not been characterized however, due to the effects of other truncation mutations downstream of D53 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
STK11 mutant STK11 inact mut STK11 D53Gfs*110 |
| Transcript | NM_000455.5 |
| gDNA | chr19:g.1207070dupG |
| cDNA | c.157dupG |
| Protein | p.D53Gfs*110 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005259618.3 | chr19:g.1207070dupG | c.157dupG | p.D53Gfs*110 | RefSeq | GRCh38/hg38 |
| NM_000455.4 | chr19:g.1207070dupG | c.157dupG | p.D53Gfs*110 | RefSeq | GRCh38/hg38 |
| NM_001407255.1 | chr19:g.1207070dupG | c.157dupG | p.D53Gfs*110 | RefSeq | GRCh38/hg38 |
| NM_000455.5 | chr19:g.1207070dupG | c.157dupG | p.D53Gfs*110 | RefSeq | GRCh38/hg38 |
| XM_005259617.3 | chr19:g.1207070dupG | c.157dupG | p.D53Gfs*110 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| STK11 D53Gfs*110 | loss of function - predicted | mTOR Inhibitor mTORC1 Inhibitor |