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Gene PALB2
Variant E669fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 E669fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 669 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). E669fs results in protein expression similar to wild-type Palb2, however, demonstrates 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 E669fs

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Transcript NM_024675.4
gDNA chr16:g.(23630149_23630150)
cDNA c.(2005_2004)
Protein p.E669fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011545947 chr16:g.(23630155_23630156) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
XM_011545947.2 chr16:g.(23630155_23630156) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
XM_011545946.2 chr16:g.(23630155_23630156) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
XM_017023671 chr16:g.(23630155_23630156) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
XM_017023671.1 chr16:g.(23630155_23630156) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
XM_017023672 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
NM_024675 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
NM_024675.3 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
NM_001407307.1 chr16:g.(23621423_23621424) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
NM_024675.4 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
XM_011545946 chr16:g.(23630155_23630156) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
XM_017023673 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.(23630149_23630150) c.(2005_2004) p.E669fs 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 E669fs 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 E669fs in culture (PMID: 31757951). 31757951