Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | STK11 |
Variant | P281Pfs*4 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 P281Pfs*4 indicates a shift in the reading frame starting at amino acid 281 and terminating 4 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). P281Pfs*4 results in decreased Tp53 activity in culture (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 P281fs STK11 P281Pfs*4 |
Transcript | NM_000455.5 |
gDNA | chr19:g.(1221319_1221333) |
cDNA | c.(841_855) |
Protein | p.P281Pfs*4 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000455.4 | chr19:g.(1221319_1221333) | c.(841_855) | p.P281Pfs*4 | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.(1221319_1221333) | c.(841_855) | p.P281Pfs*4 | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.(1221319_1221333) | c.(841_855) | p.P281Pfs*4 | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.(1221319_1221333) | c.(841_855) | p.P281Pfs*4 | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.(1221319_1221333) | c.(841_855) | p.P281Pfs*4 | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.(1221319_1221333) | c.(841_855) | p.P281Pfs*4 | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.(1221319_1221333) | c.(841_855) | p.P281Pfs*4 | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.(1221319_1221333) | c.(841_855) | p.P281Pfs*4 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
STK11 P281Pfs*4 | loss of function - predicted | mTOR Inhibitor mTORC1 Inhibitor |