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Gene | PALB2 |
Variant | L169I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 L169I lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L169I demonstrates subcellular localization and recruitment to laser-induced DNA damage sites similar to wild-type Palb2, results in deceased BRCA1 binding in a mammalian two-hybrid assay, reduced RAD51 foci formation and decreased homologous repair activity in one study (PMID: 31586400), but demonstrates homologous repair activity similar to wild-type Palb2 in another study (PMID: 31636395) and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 L169I |
Transcript | NM_024675.4 |
gDNA | chr16:g.23636041G>T |
cDNA | c.505C>A |
Protein | p.L169I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.3 | chr16:g.23636041G>T | c.505C>A | p.L169I | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23636041G>T | c.505C>A | p.L169I | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23636041G>T | c.505C>A | p.L169I | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23636041G>T | c.505C>A | p.L169I | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23636041G>T | c.505C>A | p.L169I | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23636041G>T | c.505C>A | p.L169I | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23636041G>T | c.505C>A | p.L169I | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23636041G>T | c.505C>A | p.L169I | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23636041G>T | c.505C>A | p.L169I | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23636041G>T | c.505C>A | p.L169I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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