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Gene | PALB2 |
Variant | A1025R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 A1025R lies within WD repeat 4 of the Palb2 protein (UniProt.org). A1025R confers a loss of function to Palb2 as demonstrated by a loss of binding to Brca2 in an in vitro assay (PMID: 19609323), and decreased homology-directed DNA repair activity in a reporter assay (PMID: 33964450). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 A1025R |
Transcript | NM_024675.4 |
gDNA | chr16:g.23621401_23621402delGCinsCG |
cDNA | c.3073_3074delGCinsCG |
Protein | p.A1025R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023673 | chr16:g.23621401_23621402delGCinsCG | c.3073_3074delGCinsCG | p.A1025R | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23621401_23621402delGCinsCG | c.3073_3074delGCinsCG | p.A1025R | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23621401_23621402delGCinsCG | c.3073_3074delGCinsCG | p.A1025R | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23621401_23621402delGCinsCG | c.3073_3074delGCinsCG | p.A1025R | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23607978_23607979delGCinsCG | c.3073_3074delGCinsCG | p.A1025R | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23621401_23621402delGCinsCG | c.3073_3074delGCinsCG | p.A1025R | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23621401_23621402delGCinsCG | c.3073_3074delGCinsCG | p.A1025R | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23621401_23621402delGCinsCG | c.3073_3074delGCinsCG | p.A1025R | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23621401_23621402delGCinsCG | c.3073_3074delGCinsCG | p.A1025R | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23621401_23621402delGCinsCG | c.3073_3074delGCinsCG | p.A1025R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PALB2 A1025R | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 A1025R were sensitive to treatment with Lynparza (olaparib) in culture, demonstrating decreased cell survival (PMID: 31636395). | 31636395 |