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Gene KEAP1
Variant V271M
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KEAP1 V271M lies within the BACK domain of the Keap1 protein (UniProt.org). V271M results in a loss of NRF2-mediated repression compared to wild-type Keap1 in an in vitro assay (PMID: 30150714), and 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 V271M

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Transcript NM_203500.2
gDNA chr19:g.10492091C>T
cDNA c.811G>A
Protein p.V271M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005260173 chr19:g.10492091C>T c.811G>A p.V271M RefSeq GRCh38/hg38
XM_011528452 chr19:g.10492091C>T c.811G>A p.V271M RefSeq GRCh38/hg38
NM_203500.2 chr19:g.10492091C>T c.811G>A p.V271M RefSeq GRCh38/hg38
XM_005260174.1 chr19:g.10492091C>T c.811G>A p.V271M RefSeq GRCh38/hg38
NM_203500 chr19:g.10492091C>T c.811G>A p.V271M RefSeq GRCh38/hg38
NM_203500.1 chr19:g.10492091C>T c.811G>A p.V271M RefSeq GRCh38/hg38
XM_005260174 chr19:g.10492091C>T c.811G>A p.V271M RefSeq GRCh38/hg38
NM_012289.4 chr19:g.10492091C>T c.811G>A p.V271M RefSeq GRCh38/hg38
XM_011528452.1 chr19:g.10492091C>T c.811G>A p.V271M RefSeq GRCh38/hg38
XM_005260173.1 chr19:g.10492091C>T c.811G>A p.V271M RefSeq GRCh38/hg38
NM_012289 chr19:g.10492091C>T c.811G>A p.V271M RefSeq GRCh38/hg38
NM_012289.3 chr19:g.10492091C>T c.811G>A p.V271M 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
KEAP1 V271M loss of function