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 | G61Afs*3 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 G61Afs*3 indicates a shift in the reading frame starting at amino acid 61 and terminating 3 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). G61Afs*3 has not been characterized however, due to the effects of other truncation mutations downstream of G61 (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 G61Afs*3 |
Transcript | NM_000455.5 |
gDNA | chr19:g.1207095delG |
cDNA | c.182delG |
Protein | p.G61Afs*3 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407255.1 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
XM_011528209 | chr19:g.1219352_1219353insCCCCGTA | c.181_182insCCCCGTA | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
XM_011528209.2 | chr19:g.1219352_1219353insCCCCATA | c.181_182insCCCCATA | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1207095delG | c.182delG | p.G61Afs*3 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|