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Gene STK11
Variant D194Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions STK11 D194Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194Y results in decreased Stk11 kinase activity in in vitro assays (PMID: 32647375; PMID: 34849607), decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607), decreased protein stability, aberrant gene expression profile, increased cell motility, 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 D194Y

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Transcript NM_000455.5
gDNA chr19:g.1220488G>T
cDNA c.580G>T
Protein p.D194Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005259617 chr19:g.1220488G>T c.580G>T p.D194Y RefSeq GRCh38/hg38
NM_000455 chr19:g.1220488G>T c.580G>T p.D194Y RefSeq GRCh38/hg38
NM_000455.4 chr19:g.1220488G>T c.580G>T p.D194Y RefSeq GRCh38/hg38
NM_001407255.1 chr19:g.1220488G>T c.580G>T p.D194Y RefSeq GRCh38/hg38
NM_000455.5 chr19:g.1220488G>T c.580G>T p.D194Y RefSeq GRCh38/hg38
XM_005259618 chr19:g.1220488G>T c.580G>T p.D194Y RefSeq GRCh38/hg38
XM_005259618.3 chr19:g.1220488G>T c.580G>T p.D194Y RefSeq GRCh38/hg38
XM_005259617.3 chr19:g.1220488G>T c.580G>T p.D194Y RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References