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Gene | STK11 |
Variant | N181E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | STK11 N181E lies within the protein kinase domain of the Stk11 protein (UniProt.org). N181E results in failure to activate the downstream kinase Ampk in an vitro assay (PMID: 19892943) and demonstrates reduced association with the Strad-Mo25 complex (PMID: 26212320). |
Associated Drug Resistance | |
Category Variants Paths |
STK11 mutant STK11 inact mut STK11 N181E |
Transcript | NM_000455.5 |
gDNA | chr19:g.1220449_1220451delAACinsGAG |
cDNA | c.541_543delAACinsGAG |
Protein | p.N181E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005259618.3 | chr19:g.1220449_1220451delAACinsGAG | c.541_543delAACinsGAG | p.N181E | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1220449_1220451delAACinsGAG | c.541_543delAACinsGAG | p.N181E | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1220449_1220451delAACinsGAG | c.541_543delAACinsGAG | p.N181E | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1220449_1220451delAACinsGAG | c.541_543delAACinsGAG | p.N181E | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1220449_1220451delAACinsGAG | c.541_543delAACinsGAG | p.N181E | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1220449_1220451delAACinsGAG | c.541_543delAACinsGAG | p.N181E | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1220449_1220451delAACinsGAG | c.541_543delAACinsGAG | p.N181E | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1220449_1220451delAACinsGAG | c.541_543delAACinsGAG | p.N181E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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