PALB2 P1009Lfs*6
Gene Variant Detail

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Gene PALB2
Variant P1009Lfs*6
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions PALB2 P1009Lfs*6 indicates a shift in the reading frame starting at amino acid 1009 and terminating 6 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). P1009Lfs*6 confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 P1009Lfs*6

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Transcript NM_024675.4
gDNA chr16:g.23621453delG
cDNA c.3026delC
Protein p.P1009Lfs*6
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023673 chr16:g.23621453delG c.3026delC p.P1009Lfs*6 RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23621453delG c.3026delC p.P1009Lfs*6 RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23621453delG c.3026delC p.P1009Lfs*6 RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23621453delG c.3026delC p.P1009Lfs*6 RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23621453delG c.3026delC p.P1009Lfs*6 RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23621453delG c.3026delC p.P1009Lfs*6 RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23621453delG c.3026delC p.P1009Lfs*6 RefSeq GRCh38/hg38
XM_017023672 chr16:g.23621453delG c.3026delC p.P1009Lfs*6 RefSeq GRCh38/hg38
NM_024675 chr16:g.23621453delG c.3026delC p.P1009Lfs*6 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 P1009Lfs*6 Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 P1009Lfs*6 in culture (PMID: 31757951). 31757951