PALB2 P378Lfs*46
Gene Variant Detail

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Gene PALB2
Variant P378Lfs*46
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 P378Lfs*46 indicates a shift in the reading frame starting at amino acid 378 and terminating 46 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). P378Lfs*46 has not been characterized, however, due to the effects of other truncation mutations downstream of P378 (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 P378Lfs*46

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Transcript NM_024675.4
gDNA chr16:g.23635414delG
cDNA c.1133delC
Protein p.P378Lfs*46
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407302.1 chr16:g.23635414delG c.1133delC p.P378Lfs*46 RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23635414delG c.1133delC p.P378Lfs*46 RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23635414delG c.1133delC p.P378Lfs*46 RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23635414delG c.1133delC p.P378Lfs*46 RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23635414delG c.1133delC p.P378Lfs*46 RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23635414delG c.1133delC p.P378Lfs*46 RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23635414delG c.1133delC p.P378Lfs*46 RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23635414delG c.1133delC p.P378Lfs*46 RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23635414delG c.1133delC p.P378Lfs*46 RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23635414delG c.1133delC p.P378Lfs*46 RefSeq 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

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Molecular Profile Protein Effect Treatment Approaches
PALB2 P378Lfs*46 loss of function - predicted PARP Inhibitor (Pan)