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Gene | PALB2 |
Variant | P864S |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PALB2 P864S lies within WD repeat 1 of the Palb2 protein (UniProt.org). P864S results in Brca2 binding, Rad51 foci formation, and recruitment to DNA damage sites similar to wild-type Palb2 in cultured cells (PMID: 31586400), retains homology-directed DNA repair activity in cultured cells (PMID: 31586400, PMID: 31636395, PMID: 31757951), and rescues PARP inhibitor sensitivity in PALB2-null cells (PMID: 31586400). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 P864S |
Transcript | NM_024675.4 |
gDNA | chr16:g.23626394G>A |
cDNA | c.2590C>T |
Protein | p.P864S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407302.1 | chr16:g.23624091G>A | c.2590C>T | p.P864S | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23626394G>A | c.2590C>T | p.P864S | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23626394G>A | c.2590C>T | p.P864S | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23626394G>A | c.2590C>T | p.P864S | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23626394G>A | c.2590C>T | p.P864S | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23624091G>A | c.2590C>T | p.P864S | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23626394G>A | c.2590C>T | p.P864S | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23626394G>A | c.2590C>T | p.P864S | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23626394G>A | c.2590C>T | p.P864S | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23626394G>A | c.2590C>T | p.P864S | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23626394G>A | c.2590C>T | p.P864S | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23626394G>A | c.2590C>T | p.P864S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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