PALB2 S1058P
Gene Variant Detail

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Gene PALB2
Variant S1058P
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions PALB2 S1058P lies within WD repeat 5 of the Palb2 protein (UniProt.org). S1058P results in DNA damage-induced cell cycle checkpoint maintenance similar to wild-type Palb2 and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 S1058P

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Transcript NM_024675.4
gDNA chr16:g.23614033A>G
cDNA c.3172T>C
Protein p.S1058P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407297.1 chr16:g.23607969_23607970delAGinsCC c.3172_3173delAGinsCC p.S1058P RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23614033A>G c.3172T>C p.S1058P RefSeq GRCh38/hg38
NM_024675 chr16:g.23614033A>G c.3172T>C p.S1058P RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23614033A>G c.3172T>C p.S1058P RefSeq GRCh38/hg38
XM_017023673 chr16:g.23614033A>G c.3172T>C p.S1058P RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23614033A>G c.3172T>C p.S1058P RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23614033A>G c.3172T>C p.S1058P 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