PALB2 R170Ifs*14
Gene Variant Detail

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Gene PALB2
Variant R170Ifs*14
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions PALB2 R170Ifs*14 indicates a shift in the reading frame starting at amino acid 170 and terminating 14 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). R170Ifs*14 confers a loss of function to the Palb2 protein as demonstrated by decreased recruitment to DNA damage sites, reduced Brca2 binding, and loss of Rad51 activation in cultured cells (PMID: 28158555).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 R170fs PALB2 R170Ifs*14

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Transcript NM_024675.4
gDNA chr16:g.23636037_23636038delCT
cDNA c.509_510delGA
Protein p.R170Ifs*14
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.