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Gene PALB2
Variant A1017T
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions PALB2 A1017T lies within WD repeat 4 of the Palb2 protein (UniProt.org). A1017T results in BRCA2 binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 A1017T

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Transcript NM_024675.4
gDNA chr16:g.23621426C>T
cDNA c.3049G>A
Protein p.A1017T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407299.1 chr16:g.23621426C>T c.3049G>A p.A1017T RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23621426C>T c.3049G>A p.A1017T RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23621426C>T c.3049G>A p.A1017T RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23621426C>T c.3049G>A p.A1017T RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23621426C>T c.3049G>A p.A1017T RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23621426C>T c.3049G>A p.A1017T RefSeq GRCh38/hg38

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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