Gene Variant Detail

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Gene FOXL2
Variant E69K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FOXL2 E69K lies within the fork-head DNA binding region of the Foxl2 protein (UniProt.org). E69K demonstrates activation of MnSOD and Goat FOXL2 promoters similar to wild-type protein in reporter assays (PMID: 18372316, PMID: 19010791), however, results in intermediate levels of SIRT1 promoter activation (PMID: 19010791), and abnormal nuclear aggregation in cell culture (PMID: 18372316), and therefore, its effect on Foxl2 protein function is unknown.
Associated Drug Resistance

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Transcript NM_023067
gDNA chr3:g.138946518C>T
cDNA c.205G>A
Protein p.E69K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_023067 chr3:g.138946518C>T c.205G>A p.E69K RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
FOXL2 E69K unknown