PALB2 R131fs
Gene Variant Detail

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Gene PALB2
Variant R131fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 R131fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 131 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). R131fs has not been characterized however, due to the effects of other truncation mutations downstream of R131 (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 R131fs

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Transcript NM_024675.4
gDNA chr16:g.(23636155_23636156)
cDNA c.(391_390)
Protein p.R131fs
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.