PALB2 P4L
Gene Variant Detail

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Gene PALB2
Variant P4L
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions PALB2 P4L lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). P4L results in BRCA1 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 P4L

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Transcript NM_024675.4
gDNA chr16:g.23641147G>A
cDNA c.11C>T
Protein p.P4L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407301.1 chr16:g.23641147G>A c.11C>T p.P4L RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23641147G>A c.11C>T p.P4L RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23641147G>A c.11C>T p.P4L RefSeq GRCh38/hg38
NM_001407314.1 chr16:g.23641147G>A c.11C>T p.P4L RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23641147G>A c.11C>T p.P4L RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23641147G>A c.11C>T p.P4L RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23641147G>A c.11C>T p.P4L RefSeq GRCh38/hg38
NM_001407296.1 chr16:g.23641147G>A c.11C>T p.P4L RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23641147G>A c.11C>T p.P4L RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23641147G>A c.11C>T p.P4L RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23641147G>A c.11C>T p.P4L RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23641147G>A c.11C>T p.P4L RefSeq GRCh38/hg38

Filtering

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries