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Gene KEAP1
Variant S338L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KEAP1 S338L lies within Kelch repeat 1 of the Keap1 protein (UniProt.org). S338L retains interaction with Cul3 but results in loss of interaction with Nrf2 and decreased Nrf2 ubiquitination in culture, loss of NRF2-mediated repression compared to wild-type Keap1 in a reporter assay (PMID: 18692501), and loss of Tnf-mediated NF-kappaB repression in a reporter assay (PMID: 20600852).
Associated Drug Resistance
Category Variants Paths

KEAP1 mutant KEAP1 inact mut KEAP1 S338L

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Transcript NM_203500.2
gDNA chr19:g.10491889G>A
cDNA c.1013C>T
Protein p.S338L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_012289.4 chr19:g.10491889G>A c.1013C>T p.S338L RefSeq GRCh38/hg38
NM_203500.2 chr19:g.10491889G>A c.1013C>T p.S338L 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References