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Gene | STK11 |
Variant | Y60fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 Y60fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 60 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). Y60fs has not been characterized however, due to the effects of other truncation mutations downstream of Y60 (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 Y60fs |
Transcript | NM_000455.5 |
gDNA | chr19:g.(1207090_1207091) |
cDNA | c.(178_177) |
Protein | p.Y60fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005259617.3 | chr19:g.(1207090_1207091) | c.(178_177) | p.Y60fs | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.(1207090_1207091) | c.(178_177) | p.Y60fs | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.(1207090_1207091) | c.(178_177) | p.Y60fs | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.(1207090_1207091) | c.(178_177) | p.Y60fs | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.(1207090_1207091) | c.(178_177) | p.Y60fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
STK11 Y60fs | loss of function - predicted | mTOR Inhibitor mTORC1 Inhibitor |