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Gene KEAP1
Variant C249Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KEAP1 C249Y lies within the BACK domain of the Keap1 protein (UniProt.org). C249Y retains interaction with Nrf2 and Cul3 in culture but results in decreased Nrf2 ubiquitination in culture and loss of NRF2-mediated repression compared to wild-type Keap1 in a reporter assay (PMID: 18692501).
Associated Drug Resistance
Category Variants Paths

KEAP1 mutant KEAP1 inact mut KEAP1 C249Y

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Transcript NM_203500.2
gDNA chr19:g.10492156C>T
cDNA c.746G>A
Protein p.C249Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_012289.4 chr19:g.10492156C>T c.746G>A p.C249Y RefSeq GRCh38/hg38
NM_203500.2 chr19:g.10492156C>T c.746G>A p.C249Y 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References