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Gene KEAP1
Variant Y490*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions KEAP1 Y490* results in a premature truncation of the Keap1 protein at amino acid 490 of 624 (UniProt.org). Y490* confers a loss of function to the Keap1 protein as demonstrated by loss of Nfe2l2 inhibition leading to increased Nfe2l2 target gene expression and cell survival following irradiation or hydrogen peroxide treatment in culture (PMID: 33071215).
Associated Drug Resistance
Category Variants Paths

KEAP1 mutant KEAP1 inact mut KEAP1 Y490*

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Transcript NM_203500.2
gDNA chr19:g.10489709G>T
cDNA c.1470C>A
Protein p.Y490*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_203500.1 chr19:g.10489709G>T c.1470C>A p.Y490* RefSeq GRCh38/hg38
NM_203500.2 chr19:g.10489709G>T c.1470C>A p.Y490* RefSeq GRCh38/hg38
XM_005260174.1 chr19:g.10489709G>T c.1470C>A p.Y490* RefSeq GRCh38/hg38
NM_012289.4 chr19:g.10489709G>T c.1470C>A p.Y490* RefSeq GRCh38/hg38
XM_005260173.1 chr19:g.10489709G>T c.1470C>A p.Y490* RefSeq GRCh38/hg38
NM_012289.3 chr19:g.10489709G>T c.1470C>A p.Y490* RefSeq GRCh38/hg38
XM_011528452.1 chr19:g.10489709G>T c.1470C>A p.Y490* 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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