PALB2 Y1183*
Gene Variant Detail

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Gene PALB2
Variant Y1183*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions PALB2 Y1183* results in a premature truncation of the Palb2 protein at amino acid 1183 of 1186 (UniProt.org). Y1183* confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability (PMID: 31757951), and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 Y1183*

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Transcript NM_024675.4
gDNA chr16:g.23603471G>T
cDNA c.3549C>A
Protein p.Y1183*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675.4 chr16:g.23603471G>T c.3549C>A p.Y1183* RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23603471G>T c.3549C>A p.Y1183* RefSeq GRCh38/hg38
NM_024675 chr16:g.23603471G>T c.3549C>A p.Y1183* 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 Y1183* 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 Y1183* in culture (PMID: 31757951). 31757951
PALB2 Y1183* Advanced Solid Tumor sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, Platinol (cisplatin) treatment decreased viability of cells expressing PALB2 Y1183* in culture (PMID: 31757951). 31757951