PALB2 L1040S
Gene Variant Detail

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Gene PALB2
Variant L1040S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 L1040S lies within WD repeat 4 of the Palb2 protein (UniProt.org). L1040S does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 L1040S

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Transcript NM_024675.4
gDNA chr16:g.23614086A>G
cDNA c.3119T>C
Protein p.L1040S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675 chr16:g.23614086A>G c.3119T>C p.L1040S RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23603664_23603665delCTinsTC c.3118_3119delCTinsTC p.L1040S RefSeq GRCh38/hg38
XM_017023673 chr16:g.23614086A>G c.3119T>C p.L1040S RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23614086A>G c.3119T>C p.L1040S RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23614086A>G c.3119T>C p.L1040S RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23603664_23603665delCTinsTC c.3118_3119delCTinsTC p.L1040S RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23614086A>G c.3119T>C p.L1040S RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23614086A>G c.3119T>C p.L1040S RefSeq GRCh38/hg38
XM_017023672 chr16:g.23603664_23603665delAGinsGA c.3118_3119delCTinsTC p.L1040S 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")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries