PALB2 K142Nfs*35
Gene Variant Detail

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Gene PALB2
Variant K142Nfs*35
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 K142Nfs*35 indicates a shift in the reading frame starting at amino acid 142 and terminating 35 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). K142Nfs*35 has not been characterized however, due to the effects of other truncation mutations downstream of K142 (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 K142Nfs*35

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Transcript NM_024675.4
gDNA chr16:g.23636120delC
cDNA c.426delG
Protein p.K142Nfs*35
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • 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

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