PALB2 K1098*
Gene Variant Detail

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Gene PALB2
Variant K1098*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions PALB2 K1098* results in a premature truncation of the Palb2 protein at amino acid 1098 of 1186 (UniProt.org). K1098* confers a loss of function to Palb2 protein as indicated by a loss of binding to Brca2, Rad51c, and Rad51 (PMID: 24141787), reduced Brca2 and Rad51 foci formation, and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 19584259).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 K1098*

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Transcript NM_024675.4
gDNA chr16:g.23607922T>A
cDNA c.3292A>T
Protein p.K1098*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675 chr16:g.23607922T>A c.3292A>T p.K1098* RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23607922T>A c.3292A>T p.K1098* RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23607922T>A c.3292A>T p.K1098* 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries