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Gene | STK11 |
Variant | R87K |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 R87K lies within the protein kinase domain of the Stk11 protein (UniProt.org). R87K demonstrates kinase activity, subcellular localization, ability to inhibit proliferation, cell cycle progression, and colony formation similar to wild-type protein in cultured cells, and inhibits tumor growth in mouse models, but results in decreased protein stability, aberrant gene expression, failure to inhibit Fak phosphorylation, and leads to increased cell motility in cultured cells (PMID: 32647375), 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 R87K |
Transcript | NM_000455.5 |
gDNA | chr19:g.1207173G>A |
cDNA | c.260G>A |
Protein | p.R87K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000455.4 | chr19:g.1207173G>A | c.260G>A | p.R87K | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1207173G>A | c.260G>A | p.R87K | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1207173G>A | c.260G>A | p.R87K | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1207173G>A | c.260G>A | p.R87K | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1207173G>A | c.260G>A | p.R87K | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1207173G>A | c.260G>A | p.R87K | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1207173G>A | c.260G>A | p.R87K | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1207173G>A | c.260G>A | p.R87K | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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