KEAP1 G379D
Gene Variant Detail

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Gene KEAP1
Variant G379D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KEAP1 G379D lies within Kelch repeat 2 of the Keap1 protein (UniProt.org). G379D 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 G379D

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Transcript NM_203500.2
gDNA chr19:g.10491766C>T
cDNA c.1136G>A
Protein p.G379D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_012289.4 chr19:g.10491766C>T c.1136G>A p.G379D RefSeq GRCh38/hg38
NM_203500.2 chr19:g.10491766C>T c.1136G>A p.G379D 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