Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene KEAP1
Variant R413L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KEAP1 R413L lies within Kelch repeat 2 of the Keap1 protein (UniProt.org). R413L confers a loss of function to the Keap1 protein as demonstrated by failure to bind and ubiquitinate Ikk-beta (PMID: 19818716), and loss of Nrf2 inhibition leading to increased expression of Nrf2 target genes, colony formation, and cell migration in culture (PMID: 32576270).
Associated Drug Resistance
Category Variants Paths

KEAP1 mutant KEAP1 inact mut KEAP1 R413L

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.

Transcript NM_203500.2
gDNA chr19:g.10491664C>A
cDNA c.1238G>T
Protein p.R413L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005260174 chr19:g.10491664C>A c.1238G>T p.R413L RefSeq GRCh38/hg38
NM_012289 chr19:g.10491664C>A c.1238G>T p.R413L RefSeq GRCh38/hg38
NM_203500.2 chr19:g.10491664C>A c.1238G>T p.R413L RefSeq GRCh38/hg38
NM_203500 chr19:g.10491664C>A c.1238G>T p.R413L RefSeq GRCh38/hg38
NM_012289.4 chr19:g.10491664C>A c.1238G>T p.R413L RefSeq GRCh38/hg38
XM_005260173 chr19:g.10491664C>A c.1238G>T p.R413L RefSeq GRCh38/hg38
XM_005260174.1 chr19:g.10491664C>A c.1238G>T p.R413L RefSeq GRCh38/hg38
XM_011528452 chr19:g.10491664C>A c.1238G>T p.R413L RefSeq GRCh38/hg38
NM_012289.3 chr19:g.10491664C>A c.1238G>T p.R413L RefSeq GRCh38/hg38
NM_203500.1 chr19:g.10491664C>A c.1238G>T p.R413L RefSeq GRCh38/hg38
XM_005260173.1 chr19:g.10491664C>A c.1238G>T p.R413L RefSeq GRCh38/hg38
XM_011528452.1 chr19:g.10491664C>A c.1238G>T p.R413L 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