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Gene | STK11 |
Variant | G135R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | STK11 G135R lies within the protein kinase domain of the Stk11 protein (UniProt.org). G135R results in decreased Stk11 kinase activity in an in vitro assay, defective mitochondria function, aberrant gene expression profile, failure to inhibit proliferation, colony formation, and cell cycle progression in cultured cells, and promotes tumor growth in mouse models (PMID: 32647375). |
Associated Drug Resistance | |
Category Variants Paths |
STK11 mutant STK11 inact mut STK11 G135R |
Transcript | NM_000455.5 |
gDNA | chr19:g.1219352G>C |
cDNA | c.403G>C |
Protein | p.G135R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000455 | chr19:g.1219352G>C | c.403G>C | p.G135R | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1219352G>C | c.403G>C | p.G135R | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1219352G>C | c.403G>C | p.G135R | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1219352G>C | c.403G>C | p.G135R | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1219352G>C | c.403G>C | p.G135R | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1219352G>C | c.403G>C | p.G135R | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1219352G>C | c.403G>C | p.G135R | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1219352G>C | c.403G>C | p.G135R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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