PALB2 G998E
Gene Variant Detail

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Gene PALB2
Variant G998E
Impact List missense
Protein Effect no effect
Gene Variant Descriptions PALB2 G998E lies within WD repeat 3 of the Palb2 protein (UniProt.org). G998E results in Brca2 binding, Rad51 foci formation, and DNA damage-induced cell cycle checkpoint maintenance similar to wild-type Palb2 (PMID: 31586400, PMID: 31757951), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 31586400, PMID: 31636395, PMID: 31757951).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 G998E

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Transcript NM_024675.4
gDNA chr16:g.23622972C>T
cDNA c.2993G>A
Protein p.G998E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407299.1 chr16:g.23622972C>T c.2993G>A p.G998E RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23622972C>T c.2993G>A p.G998E RefSeq GRCh38/hg38
XM_017023672 chr16:g.23622972C>T c.2993G>A p.G998E RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23622972C>T c.2993G>A p.G998E RefSeq GRCh38/hg38
XM_017023673 chr16:g.23622972C>T c.2993G>A p.G998E RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23622972C>T c.2993G>A p.G998E RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23622972C>T c.2993G>A p.G998E RefSeq GRCh38/hg38
NM_024675 chr16:g.23622972C>T c.2993G>A p.G998E RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23622972C>T c.2993G>A p.G998E 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References