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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 |
---|---|---|---|---|---|
NM_000455.4 | 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 |
NM_001407255.1 | chr19:g.1207070dupG | c.157dupG | p.D53Gfs*110 | RefSeq | GRCh38/hg38 |
XM_005259618.3 | 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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
STK11 D53Gfs*110 | loss of function - predicted | mTOR Inhibitor mTORC1 Inhibitor |