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Gene | STK11 |
Variant | L285Q |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 L285Q lies within the protein kinase domain of the Stk11 protein (UniProt.org). L285Q results in failure to activate the downstream kinase Ampk in an in vitro assay (PMID: 19892943), 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 L285Q |
Transcript | NM_000455.5 |
gDNA | chr19:g.1221332T>A |
cDNA | c.854T>A |
Protein | p.L285Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000455.5 | chr19:g.1221332T>A | c.854T>A | p.L285Q | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1221332T>A | c.854T>A | p.L285Q | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1221332T>A | c.854T>A | p.L285Q | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1221332T>A | c.854T>A | p.L285Q | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1221332T>A | c.854T>A | p.L285Q | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1221332T>A | c.854T>A | p.L285Q | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1221332T>A | c.854T>A | p.L285Q | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1221332T>A | c.854T>A | p.L285Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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