PALB2 L1070P
Gene Variant Detail

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Gene PALB2
Variant L1070P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PALB2 L1070P lies within WD repeat 5 of the Palb2 protein (UniProt.org). L1070P confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability (PMID: 31757951), aberrant cytosolic accumulation and reduced Rad51 foci formation (PMID: 31636395), and intermediate or impaired homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 33964450, PMID: 31636395, PMID: 31757951).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 L1070P

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Transcript NM_024675.4
gDNA chr16:g.23608005A>G
cDNA c.3209T>C
Protein p.L1070P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675.4 chr16:g.23608005A>G c.3209T>C p.L1070P RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23608005A>G c.3209T>C p.L1070P RefSeq GRCh38/hg38
NM_024675 chr16:g.23608005A>G c.3209T>C p.L1070P 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

  • 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries