PALB2 G1043A
Gene Variant Detail

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Gene PALB2
Variant G1043A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 G1043A lies within WD repeat 4 of the Palb2 protein (UniProt.org). G1043A does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), however, results in decreased Brca2 binding, reduced Palb2 recruitment to DNA damage sites, and impaired homology-directed DNA repair activity in cultured cells in another study (PMID: 31586400), 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 G1043A

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Transcript NM_024675.4
gDNA chr16:g.23614077C>G
cDNA c.3128G>C
Protein p.G1043A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023673 chr16:g.23614077C>G c.3128G>C p.G1043A RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23614077C>G c.3128G>C p.G1043A RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23614077C>G c.3128G>C p.G1043A RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23614077C>G c.3128G>C p.G1043A RefSeq GRCh38/hg38
NM_024675 chr16:g.23614077C>G c.3128G>C p.G1043A RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23614077C>G c.3128G>C p.G1043A RefSeq GRCh38/hg38

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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