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 | A205Rfs*82 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 A205Rfs*82 indicates a shift in the reading frame starting at amino acid 205 and terminating 82 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). A205Rfs*82 has not been characterized however, due to the effects of other truncation mutations downstream of A205 (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 A205Rfs*82 |
Transcript | NM_000455.5 |
gDNA | chr19:g.1220596delG |
cDNA | c.613delG |
Protein | p.A205Rfs*82 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000455.4 | chr19:g.1220596delG | c.613delG | p.A205Rfs*82 | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1220596delG | c.613delG | p.A205Rfs*82 | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1220596delG | c.613delG | p.A205Rfs*82 | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1220596delG | c.613delG | p.A205Rfs*82 | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1220596delG | c.613delG | p.A205Rfs*82 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|