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| Gene | STK11 |
| Variant | G61Afs*3 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | STK11 G61Afs*3 indicates a shift in the reading frame starting at amino acid 61 and terminating 3 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). G61Afs*3 has not been characterized however, due to the effects of other truncation mutations downstream of G61 (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 G61Afs*3 |
| Transcript | NM_000455.5 |
| gDNA | chr19:g.1207095delG |
| cDNA | c.182delG |
| Protein | p.G61Afs*3 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000455.5 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
| XM_011528209 | chr19:g.1219352_1219353insCCCCGTA | c.181_182insCCCCGTA | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
| NM_001407255.1 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
| NM_000455 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
| XM_005259618.3 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
| XM_005259618 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
| XM_005259617.3 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
| XM_011528209.2 | chr19:g.1219352_1219353insCCCCATA | c.181_182insCCCCATA | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
| NM_000455.4 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
| XM_005259617 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| STK11 G61Afs*3 | loss of function - predicted | mTOR Inhibitor mTORC1 Inhibitor |