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
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011545946.2 chr16:g.23636127_23636128insGGGGGGGGGGGGGGGGGGTTGT c.425_426insCAACCCCCCCCCCCCCCCCCCA p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407308.1 chr16:g.(23635130_23635237) c.(424_531) p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23636120delC c.426delG p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23636120delC c.426delG p.K142Nfs*35 RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23636120delC c.426delG p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23636120delC c.426delG p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23636120delC c.426delG p.K142Nfs*35 RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23636120delC c.426delG p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407307.1 chr16:g.(23635130_23635237) c.(424_531) p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407305.1 chr16:g.(23635130_23635237) c.(424_531) p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407304.1 chr16:g.(23635130_23635237) c.(424_531) p.K142Nfs*35 RefSeq GRCh38/hg38
XM_011545947.2 chr16:g.23636127_23636128insGGGGGGGGGGGGGGGGGGTTGT c.425_426insCAACCCCCCCCCCCCCCCCCCA p.K142Nfs*35 RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23636120delC c.426delG p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23636120delC c.426delG p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407306.1 chr16:g.(23635130_23635237) c.(424_531) p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23636120delC c.426delG p.K142Nfs*35 RefSeq GRCh38/hg38
XM_011545948.2 chr16:g.(23635130_23635237) c.(424_531) p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407309.1 chr16:g.(23635130_23635237) c.(424_531) p.K142Nfs*35 RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23636120delC c.426delG p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407311.1 chr16:g.(23635130_23635237) c.(424_531) p.K142Nfs*35 RefSeq GRCh38/hg38
XM_017023671.1 chr16:g.23636127_23636128insGGGGGGGGGGGGGGGGGGTTGT c.425_426insCAACCCCCCCCCCCCCCCCCCA p.K142Nfs*35 RefSeq GRCh38/hg38
NM_001407310.1 chr16:g.(23635130_23635237) c.(424_531) p.K142Nfs*35 RefSeq 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

  • 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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Molecular Profile Protein Effect Treatment Approaches
PALB2 K142Nfs*35 loss of function - predicted PARP Inhibitor (Pan)