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 | K262Sfs*25 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | STK11 K262Sfs*25 indicates a shift in the reading frame starting at amino acid 262 and terminating 257 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). K262Sfs*25 has not been characterized however, due to the effects of other truncation mutations downstream of K262 (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 K262Sfs*25 |
| Transcript | NM_000455.5 |
| gDNA | chr19:g.1221263delA |
| cDNA | c.785delA |
| Protein | p.K262Sfs*25 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000455.5 | chr19:g.1221263delA | c.785delA | p.K262Sfs*25 | RefSeq | GRCh38/hg38 |
| XM_005259617.3 | chr19:g.1221263delA | c.785delA | p.K262Sfs*25 | RefSeq | GRCh38/hg38 |
| NM_000455.4 | chr19:g.1221263delA | c.785delA | p.K262Sfs*25 | RefSeq | GRCh38/hg38 |
| XM_005259618.3 | chr19:g.1221263delA | c.785delA | p.K262Sfs*25 | RefSeq | GRCh38/hg38 |
| NM_001407255.1 | chr19:g.1221263delA | c.785delA | p.K262Sfs*25 | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|