PALB2 L947F
Gene Variant Detail

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Gene PALB2
Variant L947F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PALB2 L947F lies within WD repeat 2 of the Palb2 protein (UniProt.org). L947F results in reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400, PMID: 31636395), Palb2 protein accumulation in the cytoplasm, and decreased Rad51 foci formation and foci intensity compared to wild-type protein (PMID: 31586400).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 L947F

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Transcript NM_024675.4
gDNA chr16:g.23623124C>A
cDNA c.2841G>T
Protein p.L947F
Source Database RefSeq
Genome Build 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.