PALB2 T1030I
Gene Variant Detail

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Gene PALB2
Variant T1030I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PALB2 T1030I lies within WD repeat 4 of the Palb2 protein (UniProt.org). T1030I confers a loss of function to the Palb2 protein as demonstrated by reduced Rad51 and Rad51c binding in in vitro assays (PMID: 24141787), decreased protein stability (PMID: 24141787, PMID: 31757951), reduced Rad51 foci formation, loss of Brca2 binding, and aberrant cytoplasmic localization (PMID: 31586400), and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400, PMID: 31636395, PMID: 31757951).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 T1030I

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Transcript NM_024675.4
gDNA chr16:g.23621386G>A
cDNA c.3089C>T
Protein p.T1030I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023673 chr16:g.23621386G>A c.3089C>T p.T1030I RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23621386G>A c.3089C>T p.T1030I RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23621386G>A c.3089C>T p.T1030I RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23621386G>A c.3089C>T p.T1030I RefSeq GRCh38/hg38
NM_024675 chr16:g.23621386G>A c.3089C>T p.T1030I RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23621386G>A c.3089C>T p.T1030I RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23621386G>A c.3089C>T p.T1030I RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23621386G>A c.3089C>T p.T1030I RefSeq GRCh38/hg38
XM_017023672 chr16:g.23621386G>A c.3089C>T p.T1030I 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.
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Molecular Profile Protein Effect Treatment Approaches
PALB2 T1030I loss of function PARP Inhibitor (Pan)