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Gene PALB2
Variant C882fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 C882fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 882 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). C882fs results in impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to lead to a loss of Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 C882fs

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Transcript NM_024675.4
gDNA chr16:g.(23626340_23626341)
cDNA c.(2644_2643)
Protein p.C882fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407301.1 chr16:g.(23626340_23626341) c.(2644_2643) p.C882fs RefSeq GRCh38/hg38
NM_024675 chr16:g.(23626340_23626341) c.(2644_2643) p.C882fs RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.(23626340_23626341) c.(2644_2643) p.C882fs RefSeq GRCh38/hg38
XM_017023673 chr16:g.(23626340_23626341) c.(2644_2643) p.C882fs RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.(23626340_23626341) c.(2644_2643) p.C882fs RefSeq GRCh38/hg38
NM_024675.3 chr16:g.(23626340_23626341) c.(2644_2643) p.C882fs RefSeq GRCh38/hg38
NM_024675.4 chr16:g.(23626340_23626341) c.(2644_2643) p.C882fs RefSeq GRCh38/hg38
XM_017023672 chr16:g.(23626340_23626341) c.(2644_2643) p.C882fs RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.(23626340_23626341) c.(2644_2643) p.C882fs RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.(23626340_23626341) c.(2644_2643) p.C882fs RefSeq GRCh38/hg38

Filtering

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 C882fs Advanced Solid Tumor predicted - sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 C882fs in culture (PMID: 31757951). 31757951