PALB2 P8L
Gene Variant Detail

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Gene PALB2
Variant P8L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 P8L lies within the DNA-binding and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). P8L demonstrates subcellular localization, recruitment to DNA damage sites, and Brca1 binding similar to wild-type Palb2 (PMID: 31586400), and leads to homology-directed DNA repair activity similar to wild-type Palb2 in one study (PMID: 31636395), but results in impaired homology-directed DNA repair activity, reduced Rad51 foci formation, and fails to rescue PARP inhibitor sensitivity in PALB2-null cells in another study (PMID: 31586400), and therefore, its effect on Palb2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 P8L

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Transcript NM_024675.4
gDNA chr16:g.23641135G>A
cDNA c.23C>T
Protein p.P8L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407296.1 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
NM_001407314.1 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
NM_024675 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
XM_017023673 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38
XM_017023672 chr16:g.23641135G>A c.23C>T p.P8L RefSeq GRCh38/hg38

Filtering

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

Sorting

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Molecular Profile Protein Effect Treatment Approaches
PALB2 P8L unknown