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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

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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

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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