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Gene | PALB2 |
Variant | L947S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 L947S lies within WD repeat 2 of the Palb2 protein (UniProt.org). L947S confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability, Brca2 binding, recruitment to DNA damage sites, and Rad51 foci formation and intensity, and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400, PMID: 31757951). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 L947S |
Transcript | NM_024675.4 |
gDNA | chr16:g.23623125A>G |
cDNA | c.2840T>C |
Protein | p.L947S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023672 | chr16:g.23623125A>G | c.2840T>C | p.L947S | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23623125A>G | c.2840T>C | p.L947S | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23614086A>G | c.2840T>C | p.L947S | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23623125A>G | c.2840T>C | p.L947S | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23623125A>G | c.2840T>C | p.L947S | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23623125A>G | c.2840T>C | p.L947S | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23623125A>G | c.2840T>C | p.L947S | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23623125A>G | c.2840T>C | p.L947S | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23623125A>G | c.2840T>C | p.L947S | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23623125A>G | c.2840T>C | p.L947S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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