PALB2 G1043V
Gene Variant Detail

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Gene PALB2
Variant G1043V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PALB2 G1043V lies within WD repeat 4 of the Palb2 protein (UniProt.org). G1043V results in decreased Palb2 protein stability, loss of nuclear localization, impaired homology-directed DNA repair activity in cultured cells, and confers sensitivity to PARP inhibition in PALB2-deficient cells (PMID: 33811135).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 G1043V

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Transcript NM_024675.4
gDNA chr16:g.23614077C>A
cDNA c.3128G>T
Protein p.G1043V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023673.2 chr16:g.23614077C>A c.3128G>T p.G1043V RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23614077C>A c.3128G>T p.G1043V RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23614077C>A c.3128G>T p.G1043V RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23614077C>A c.3128G>T p.G1043V 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 G1043V Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, expressing PALB2 G1043V conferred sensitivity to Lynparza (olaparib)-induced growth inhibition in TP53 and PALB2 double knock-out mouse embryonic stem cells in culture (PMID: 33811135). 33811135