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Gene | STK11 |
Variant | I177N |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | STK11 I177N lies within the protein kinase domain of the Stk11 protein (UniProt.org). I177N confers a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase, Ampk (PMID: 19892943), lack of autophosphorylation, loss of cytoplasmic localization, and the inability to suppress growth of cells in culture (PMID: 12552571). |
Associated Drug Resistance | |
Category Variants Paths |
STK11 mutant STK11 inact mut STK11 I177N |
Transcript | NM_000455.5 |
gDNA | chr19:g.1220438T>A |
cDNA | c.530T>A |
Protein | p.I177N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000455.4 | chr19:g.1220438T>A | c.530T>A | p.I177N | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1220438T>A | c.530T>A | p.I177N | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1220438T>A | c.530T>A | p.I177N | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1220438T>A | c.530T>A | p.I177N | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1220438T>A | c.530T>A | p.I177N | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1220438T>A | c.530T>A | p.I177N | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1220438T>A | c.530T>A | p.I177N | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1220438T>A | c.530T>A | p.I177N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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