PALB2 K353Nfs*3
Gene Variant Detail

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Gene PALB2
Variant K353Nfs*3
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 K353Nfs*3 indicates a shift in the reading frame starting at amino acid 353 and terminating three residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). K353Nfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of K353 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 K353Nfs*3

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Transcript NM_024675.4
gDNA chr16:g.23635489delT
cDNA c.1059delA
Protein p.K353Nfs*3
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
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