STK11 Y253*
Gene Variant Detail

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Gene STK11
Variant Y253*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions STK11 Y253* results in a premature truncation of the Stk11 protein at amino acid 253 of 433 (UniProt.org). Y253* results in reduced Stk11 protein expression in cultured cells (PMID: 32236518), and due to the effects of other truncation mutations downstream of Y253 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
Associated Drug Resistance
Category Variants Paths

STK11 mutant STK11 inact mut STK11 Y253*

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Transcript NM_000455.5
gDNA chr19:g.1221237C>A
cDNA c.759C>A
Protein p.Y253*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005259618 chr19:g.1221237C>A c.759C>A p.Y253* RefSeq GRCh38/hg38
XM_005259617.3 chr19:g.1221237C>A c.759C>A p.Y253* RefSeq GRCh38/hg38
NM_001407255.1 chr19:g.1221237C>A c.759C>A p.Y253* RefSeq GRCh38/hg38
NM_000455 chr19:g.1221237C>A c.759C>A p.Y253* RefSeq GRCh38/hg38
NM_000455.4 chr19:g.1221237C>A c.759C>A p.Y253* RefSeq GRCh38/hg38
NM_000455.5 chr19:g.1221237C>A c.759C>A p.Y253* RefSeq GRCh38/hg38
XM_005259618.3 chr19:g.1221237C>A c.759C>A p.Y253* RefSeq GRCh38/hg38
XM_005259617 chr19:g.1221237C>A c.759C>A p.Y253* 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 Protein Effect Treatment Approaches
STK11 Y253* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
STK11 Y253* STK11 dec exp