PALB2 I1093T
Gene Variant Detail

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Gene PALB2
Variant I1093T
Impact List missense
Protein Effect no effect
Gene Variant Descriptions PALB2 I1093T lies within WD repeat 5 of the palb2 protein (UniProt.org). I1093T results in homologous repair activity similar to wild-type protein in culture (PMID: 31636395), demonstrates subcellular localization and recruitment to dsDNA damage sites comparable to wild-type Palb2 in culture, results in BRCA2 binding similar to wild-type protein in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 I1093T

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Transcript NM_024675.4
gDNA chr16:g.23607936A>G
cDNA c.3278T>C
Protein p.I1093T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675.3 chr16:g.23607936A>G c.3278T>C p.I1093T RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23607936A>G c.3278T>C p.I1093T 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References