PALB2 I944N
Gene Variant Detail

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Gene PALB2
Variant I944N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PALB2 I944N lies within WD repeat 2 of the Palb2 protein (UniProt.org). I944N confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability (PMID: 31757951), reduced Brca2 and Rad51 binding, recruitment to DNA damage sites, and Rad51 foci formation, aberrant cytosolic accumulation (PMID: 31636395), and loss of homology-directed DNA repair activity in cultured cells (PMID: 31636395, PMID: 31757951).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 I944N

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Transcript NM_024675.4
gDNA chr16:g.23624012A>T
cDNA c.2831T>A
Protein p.I944N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023673.2 chr16:g.23624012A>T c.2831T>A p.I944N RefSeq GRCh38/hg38
XM_017023672 chr16:g.23624012A>T c.2831T>A p.I944N RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23624012A>T c.2831T>A p.I944N RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23624012A>T c.2831T>A p.I944N RefSeq GRCh38/hg38
XM_017023673 chr16:g.23624012A>T c.2831T>A p.I944N RefSeq GRCh38/hg38
NM_024675 chr16:g.23624012A>T c.2831T>A p.I944N RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23624012A>T c.2831T>A p.I944N RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23624012A>T c.2831T>A p.I944N RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23624012A>T c.2831T>A p.I944N RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23624012A>T c.2831T>A p.I944N 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 I944N loss of function PARP Inhibitor (Pan)