PALB2 V78I
Gene Variant Detail

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Gene PALB2
Variant V78I
Impact List missense
Protein Effect no effect
Gene Variant Descriptions PALB2 V78I lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). V78I demonstrates homology-directed DNA repair activity comparable to wild-type Palb2 in culture (PMID: 31636395), and results in BRCA2-binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 V78I

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Transcript NM_024675.4
gDNA chr16:g.23636314C>T
cDNA c.232G>A
Protein p.V78I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023672.2 chr16:g.23636314C>T c.232G>A p.V78I RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23636314C>T c.232G>A p.V78I RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23636314C>T c.232G>A p.V78I RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23636314C>T c.232G>A p.V78I RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23636314C>T c.232G>A p.V78I RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23636314C>T c.232G>A p.V78I RefSeq GRCh38/hg38
XM_017023672 chr16:g.23636314C>T c.232G>A p.V78I RefSeq GRCh38/hg38
NM_024675 chr16:g.23636314C>T c.232G>A p.V78I RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23636314C>T c.232G>A p.V78I RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23636314C>T c.232G>A p.V78I RefSeq GRCh38/hg38
XM_017023673 chr16:g.23636314C>T c.232G>A p.V78I RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23636314C>T c.232G>A p.V78I RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23636314C>T c.232G>A p.V78I 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 V78I no effect