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Gene STK11
Variant Y49D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions STK11 Y49D lies within the protein kinase domain of the Stk11 protein (UniProt.org). Y49D results in decreases Stk11 kinase activity in an in vitro assay, decreased protein stability and predominant nuclear localization, 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 Y49D

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Transcript NM_000455.5
gDNA chr19:g.1207058T>G
cDNA c.145T>G
Protein p.Y49D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005259618.3 chr19:g.1207058T>G c.145T>G p.Y49D RefSeq GRCh38/hg38
XM_005259617.3 chr19:g.1207058T>G c.145T>G p.Y49D RefSeq GRCh38/hg38
NM_000455 chr19:g.1207058T>G c.145T>G p.Y49D RefSeq GRCh38/hg38
NM_000455.5 chr19:g.1207058T>G c.145T>G p.Y49D RefSeq GRCh38/hg38
NM_001407255.1 chr19:g.1207058T>G c.145T>G p.Y49D RefSeq GRCh38/hg38
XM_005259617 chr19:g.1207058T>G c.145T>G p.Y49D RefSeq GRCh38/hg38
XM_005259618 chr19:g.1207058T>G c.145T>G p.Y49D RefSeq GRCh38/hg38
NM_000455.4 chr19:g.1207058T>G c.145T>G p.Y49D 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
STK11 Y49D loss of function mTOR Inhibitor mTORC1 Inhibitor