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Gene KEAP1
Variant R135L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KEAP1 R135L lies within the BTB domain of the Keap1 protein (UniProt.org). R135L results in loss of Nfe2l2 inhibition leading to increased Nfe2l2 target gene and protein expression and increased cell survival following irradiation and hydrogen peroxide treatment in culture (PMID: 33071215).
Associated Drug Resistance
Category Variants Paths

KEAP1 mutant KEAP1 inact mut KEAP1 R135L

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Transcript NM_203500.2
gDNA chr19:g.10499630C>A
cDNA c.404G>T
Protein p.R135L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005260173.1 chr19:g.10499630C>A c.404G>T p.R135L RefSeq GRCh38/hg38
XM_005260174.1 chr19:g.10499630C>A c.404G>T p.R135L RefSeq GRCh38/hg38
XM_011528452.1 chr19:g.10499630C>A c.404G>T p.R135L RefSeq GRCh38/hg38
NM_203500.1 chr19:g.10499630C>A c.404G>T p.R135L RefSeq GRCh38/hg38
NM_012289.3 chr19:g.10499630C>A c.404G>T p.R135L RefSeq GRCh38/hg38
NM_203500.2 chr19:g.10499630C>A c.404G>T p.R135L RefSeq GRCh38/hg38
NM_012289.4 chr19:g.10499630C>A c.404G>T p.R135L 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
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Molecular Profile Protein Effect Treatment Approaches
KEAP1 R135L loss of function