PALB2 L531Cfs*30
Gene Variant Detail

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Gene PALB2
Variant L531Cfs*30
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions PALB2 L531Cfs*30 indicates a shift in the reading frame starting at amino acid 531 and terminating 30 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). L531Cfs*30 confers a loss of function to the Palb2 protein as demonstrated by decreased DNA binding affinity, Brca2 and Rad51 binding, and Rad51 activation in cultured cells (PMID: 28158555), and impaired homology-directed DNA repair activity compared to wild-type in a reporter assay (PMID: 33964450), and in cultured cells lacking Tp53 (PMID: 31757951).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 L531Cfs*30

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Transcript NM_024675.4
gDNA chr16:g.23634957delA
cDNA c.1592delT
Protein p.L531Cfs*30
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407299.1 chr16:g.23634957delA c.1592delT p.L531Cfs*30 RefSeq GRCh38/hg38
XM_017023672 chr16:g.23634957delA c.1592delT p.L531Cfs*30 RefSeq GRCh38/hg38
XM_017023673 chr16:g.23634957delA c.1592delT p.L531Cfs*30 RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23634957delA c.1592delT p.L531Cfs*30 RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23634957delA c.1592delT p.L531Cfs*30 RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23634957delA c.1592delT p.L531Cfs*30 RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23634957delA c.1592delT p.L531Cfs*30 RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23634957delA c.1592delT p.L531Cfs*30 RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23634957delA c.1592delT p.L531Cfs*30 RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23634957delA c.1592delT p.L531Cfs*30 RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23634957delA c.1592delT p.L531Cfs*30 RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23634957delA c.1592delT p.L531Cfs*30 RefSeq GRCh38/hg38
NM_024675 chr16:g.23634957delA c.1592delT p.L531Cfs*30 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References