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Gene KEAP1
Variant M283fs
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions KEAP1 M283fs results in a change in the amino acid sequence of the Keap1 protein beginning at aa 283 of 624, likely resulting in premature truncation of the functional protein (UniProt.org). M283fs 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 M283fs

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Transcript NM_203500.2
gDNA chr19:g.(10492055_10492056)
cDNA c.(847_846)
Protein p.M283fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005260174.1 chr19:g.(10492055_10492056) c.(847_846) p.M283fs RefSeq GRCh38/hg38
XM_011528452.1 chr19:g.(10492055_10492056) c.(847_846) p.M283fs RefSeq GRCh38/hg38
NM_203500.1 chr19:g.(10492055_10492056) c.(847_846) p.M283fs RefSeq GRCh38/hg38
XM_005260173.1 chr19:g.(10492055_10492056) c.(847_846) p.M283fs RefSeq GRCh38/hg38
NM_012289.4 chr19:g.(10492055_10492056) c.(847_846) p.M283fs RefSeq GRCh38/hg38
NM_012289.3 chr19:g.(10492055_10492056) c.(847_846) p.M283fs RefSeq GRCh38/hg38
NM_203500.2 chr19:g.(10492055_10492056) c.(847_846) p.M283fs RefSeq GRCh38/hg38

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  • 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")

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