PALB2 N1039Ifs*2
Gene Variant Detail

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Gene PALB2
Variant N1039Ifs*2
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 N1039Ifs*2 indicates a shift in the reading frame starting at amino acid 1039 and terminating 2 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). N1039Ifs*2 has not been characterized, however, due to the effects of other truncation mutations downstream of N1039 (PMID: 31757951, PMID: 31636395), is predicted to lead to a loss of Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 N1039Ifs*2

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Transcript NM_024675.4
gDNA chr16:g.23614090delT
cDNA c.3116delA
Protein p.N1039Ifs*2
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675.4 chr16:g.23614090delT c.3116delA p.N1039Ifs*2 RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23614090delT c.3116delA p.N1039Ifs*2 RefSeq GRCh38/hg38

Filtering

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References