PALB2 L1119P
Gene Variant Detail

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Gene PALB2
Variant L1119P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 L1119P lies within WD repeat 6 of the Palb2 protein (UniProt.org). L1119P results in decreased nuclear localization, Brca2 binding, and recruitment to DNA damage sites and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400), however, demonstrates similar Rad51 foci formation and increased Rad51 foci intensity to wild-type (PMID: 31586400), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, its effect on Palb2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 L1119P

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Transcript NM_024675.4
gDNA chr16:g.23603664A>G
cDNA c.3356T>C
Protein p.L1119P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675.4 chr16:g.23603664A>G c.3356T>C p.L1119P RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23603664A>G c.3356T>C p.L1119P RefSeq GRCh38/hg38
NM_024675 chr16:g.23603664A>G c.3356T>C p.L1119P RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23603592A>G c.3356T>C p.L1119P 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.

Molecular Profile Protein Effect Treatment Approaches
PALB2 L1119P unknown