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Gene | STK11 |
Variant | L285Lfs*2 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 L285Lfs*2 indicates a shift in the reading frame starting at amino acid 285 and terminating 2 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). L285Lfs*2 results in decreased Tp53 activity in cultured cells (PMID: 30092773), 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 L285Lfs*2 |
Transcript | NM_000455.5 |
gDNA | chr19:g.(1221331_1221339) |
cDNA | c.(853_861) |
Protein | p.L285Lfs*2 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005259618 | chr19:g.(1221331_1221339) | c.(853_861) | p.L285Lfs*2 | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.(1221331_1221339) | c.(853_861) | p.L285Lfs*2 | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.(1221331_1221339) | c.(853_861) | p.L285Lfs*2 | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.(1221331_1221339) | c.(853_861) | p.L285Lfs*2 | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.(1221331_1221339) | c.(853_861) | p.L285Lfs*2 | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.(1221331_1221339) | c.(853_861) | p.L285Lfs*2 | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.(1221331_1221339) | c.(853_861) | p.L285Lfs*2 | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.(1221331_1221339) | c.(853_861) | p.L285Lfs*2 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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