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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 |
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_024675.3 | 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 |
XM_017023673.2 | chr16:g.23634957delA | c.1592delT | p.L531Cfs*30 | RefSeq | GRCh38/hg38 |
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 |
NM_001407300.1 | 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_001407298.1 | chr16:g.23634957delA | c.1592delT | p.L531Cfs*30 | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23634957delA | c.1592delT | p.L531Cfs*30 | RefSeq | GRCh38/hg38 |
NM_024675.4 | 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_017023672.2 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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