PALB2 S1084L
Gene Variant Detail

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Gene PALB2
Variant S1084L
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions PALB2 S1084L lies within WD repeat 5 of the Palb2 protein (UniProt.org). S1084L 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 S1084L

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Transcript NM_024675.4
gDNA chr16:g.23607963G>A
cDNA c.3251C>T
Protein p.S1084L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011545946.2 chr16:g.23607969_23607970delAGinsCT c.3250_3251delAGinsCT p.S1084L RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23607963G>A c.3251C>T p.S1084L RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23607963G>A c.3251C>T p.S1084L RefSeq GRCh38/hg38

Filtering

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  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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